Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cystic fibrosis transmembrane conductance regulator
Synonyms:
Abcc7

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cftr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent pneumonia, Recurrent otitis media OMIM:243110
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Short stature, Recurrent respiratory infections, Recurrent bacterial infe... OMIM:616022
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Immunodeficiency 50
Recurrent urinary tract infections, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory inf... OMIM:300988
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Cirrhosis, Jau... ORPHA:131
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
High-Grade Dysplasia In Patients With Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Dysphagia, Esophageal obstruction ORPHA:231080
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Hirschsprung Disease
Intestinal obstruction, Aganglionic megacolon, Intestinal polyposis, Functional abnormality of th... ORPHA:388
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial... OMIM:608957
Malignant Peritoneal Mesothelioma
Abdominal distention, Abdominal pain, Ascites, Peritonitis, Weight loss, Ileus, Pedal edema ORPHA:168811
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Pseudomyxoma Peritonei
Intestinal obstruction, Abnormal peritoneum morphology, Abdominal pain, Ascites, Constipation, In... ORPHA:26790
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Immunodeficiency 35
Recurrent fungal infections, Recurrent respiratory infections, Recurrent mycobacterial infections... OMIM:611521
Volvulus Of Midgut
Abdominal distention, Constipation, Intestinal malrotation, Volvulus, Neonatal intestinal obstruc... OMIM:193250
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary trac... ORPHA:2869
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia, Severe infection OMIM:619407
Small Bowel Atresia
Abdominal distention, Intestinal hypoplasia, Intestinal malrotation, Vomiting, Failure to thrive,... ORPHA:1201
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Lactose Intolerance, Adult Type
Diarrhea, Abdominal pain, Lactose intolerance, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Steatorrhea, Rectal prolapse, Cirrhosis, Decrea... ORPHA:586
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Diarrhea, Meconium ileus, Bi... OMIM:219700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Gallbladder Disease 1
Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ... OMIM:600803
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Meconium Ileus
Chronic diarrhea, Meconium ileus, Microcolon OMIM:614665
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Cachexia, Constipation, Slen... OMIM:613662
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph ... ORPHA:543
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent lower respiratory tract infections,... OMIM:613501
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Recurrent infections, Erythema nodosum, Recurrent respiratory infecti... OMIM:615214
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Desmoplastic Small Round Cell Tumor
Abdominal distention, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Abnormal peritone... ORPHA:83469
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c... OMIM:614892
Wolman Disease
Abdominal distention, Steatorrhea, Hepatomegaly, Nausea and vomiting, Cachexia, Esophageal varix,... ORPHA:75233
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Intestinal Dysmotility Syndrome
Abdominal distention, Projectile vomiting, Diarrhea, High palate, Decreased intestinal transit ti... OMIM:620045
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Cholestasis, Abnormal small intestine morphology, Aganglioni... ORPHA:95427
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Growth delay, Malnutrition, Protracted diarrhea, Villous atrophy OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Failure to thrive, Small for gestational age, Crypt hyperplasia,... OMIM:613217
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea OMIM:616868
Neuroendocrine Neoplasm Of Appendix
Anorexia, Bowel urgency, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Midg... ORPHA:100079
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis, Recurrent infections OMIM:618287
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... OMIM:300455
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Desmoid Tumor
Intestinal obstruction, Gastrointestinal hemorrhage, Sepsis, Intestinal polyposis, Abdominal pain... ORPHA:873
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Diarrhea, Ductal bile p... OMIM:613812
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepa... ORPHA:65682
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infe... OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Mantle Cell Lymphoma
Anorexia, Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss ORPHA:52416
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary... ORPHA:97278
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Decreased small int... ORPHA:103907
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Primary Peritoneal Carcinoma
Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting ORPHA:168829
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Or... OMIM:175200
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Intestinal lymphangiectasia, Hepatomegaly, Diarrhea, Abdominal pain, Abno... OMIM:226300
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Waardenburg-Shah Syndrome
Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai... ORPHA:897
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Recurrent aph... ORPHA:343
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Shigellosis
Cholestasis, Abnormal blood ion concentration, Paralytic ileus, Anorexia, Myocarditis, Abdominal ... ORPHA:810
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bacterial infections, Re... OMIM:613779
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Arthritis, Eczematoid dermatitis, Hepatitis, Failure to thrive, Erythroderma, G... OMIM:304790
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Recurrent sinopulmonary infections, Intermittent thromb... OMIM:616740
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:615294
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Dysphagia, Weight loss, Malnutrition ORPHA:930
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Cirrhosis, Abdominal pain, Abnormal liver sonography, Elevated circulating ... ORPHA:90003
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Atrophy of ... ORPHA:2686
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Portal hypertension, Splenomegaly, Nodular regenerative hyperpla... OMIM:620367
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Gastroesophageal ref... OMIM:608971
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... OMIM:615237
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Biliary tract obstruction, Intermittent jaundice, Episodic abdomi... ORPHA:100086
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Recurrent respiratory infections, Bloody diarrhea, Hypopla... OMIM:243150
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Ovarian Fibroma
Abdominal distention, Mesenteric cyst, Ovarian fibroma, Abdominal pain, Pleural effusion, Abnorma... ORPHA:314473
Immunodeficiency 61
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:300310
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Neu... OMIM:193670
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Cirrhosis, Abnormality of the gastrointestinal tract, Macrovesicular hepati... ORPHA:298
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Sepsis, Abnormal gastrointestinal vascular morphology, Ar... ORPHA:70475
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Biliary Atresia, Extrahepatic
Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Abdomin... ORPHA:2924
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Diarrhea, Pancreatic hypoplasia, Cholesta... OMIM:615710
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Chronic rhinit... OMIM:612444
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Asherman Syndrome
Secondary amenorrhea, Infertility, Episodic abdominal pain, Oligomenorrhea, Dysmenorrhea, Abnorma... ORPHA:137686
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ... OMIM:619445
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Abdominal colic, Hyperlipidemia, Vomiting, Failure to thriv... OMIM:615863
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Recurrent infections, B lym... OMIM:150550
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Constipation, Short stature, Ileus ORPHA:52503
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascit... ORPHA:97283
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on int... ORPHA:37042
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Gastroesophageal... ORPHA:2032
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Aids Wasting Syndrome
Anorexia, Cachexia, Malabsorption, Weight loss, Malnutrition ORPHA:90081
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ... ORPHA:3032
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Ductal bile plugs, Ch... OMIM:617394
Polycystic Lung Disease
Multiple pulmonary cysts, Spontaneous neonatal pneumothorax, Recurrent infections OMIM:219600
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, ... ORPHA:67
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, G... ORPHA:1876
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage... ORPHA:44890
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Cronkhite-Canada Syndrome
Anorexia, Hepatomegaly, Intestinal polyposis, Stomach cancer, Diarrhea, Abdominal pain, Cachexia,... ORPHA:2930
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased HDL chol... ORPHA:85450
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Satoyoshi Syndrome
Diarrhea, Short stature, Malabsorption, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Neutropenia, Chronic Familial
Periodontitis, Neutropenia OMIM:162700
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Recurrent respiratory infections, Chronic rhinitis, Bronchiec... OMIM:618801
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Chronic diarrhea, Intestinal bleeding, Edema, Anasarca, Abdominal colic, ... ORPHA:90363
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Helicobacter pylori infection, Lymphopenia, ... ORPHA:2688
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Abdominal pain, Diarrhea, Intestinal p... ORPHA:90038
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Short s... ORPHA:247768
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Esophageal varix, Cholestasis, Portal ... OMIM:619662
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Peritoneal Cystic Mesothelioma
Abdominal distention, Abdominal pain, Constipation, Weight loss, Peritonitis ORPHA:168816
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiect... OMIM:604571
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Chronic hepatitis,... OMIM:614602
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis OMIM:235700
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Jaundice, Pancreatitis, Abdominal pain, Vomiting ORPHA:313906
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Feeding difficulties OMIM:617239
Seckel Syndrome 7
Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation... OMIM:614851
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Protein-losing enteropathy, Abnormal circulating protein concentration, Dia... ORPHA:103910
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal salivary gland morphology, Hepatic amyloidosis, Intestinal... ORPHA:314652
Infantile Myofibromatosis
Abnormal intestine morphology, Intestinal obstruction, Neoplasm of the pancreas, Tracheoesophagea... ORPHA:2591
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arteritis, Abdominal pain, Intestinal ... ORPHA:679
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Skin ... ORPHA:97280
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Recurrent infections, Splenomegaly... OMIM:614470
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Hydatidiform Mole
Nausea and vomiting, Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Failure to thrive, Dysphagia OMIM:613559
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abdominal distention, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circula... ORPHA:369
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Hepatomegaly, Protein-losing enteropathy, Diarrhe... OMIM:608104
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Ascites ORPHA:1160
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Nasal congestion, Nasal polyposis... ORPHA:244
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Skin rash, T lymphocytopenia,... ORPHA:572
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... OMIM:211600
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Lymphadenopathy, Recurrent pharyngitis, Diarrhea, Abdominal pain, Skin ra... ORPHA:32960
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Recurrent respiratory infections, Meningitis, Absent ... OMIM:619707
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Colitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Biliary tract abnormali... OMIM:209920
Jejunal Atresia
Jejunal atresia OMIM:243600
Familial Mediterranean Fever
Intestinal obstruction, Skin rash, Ascites, Pericarditis, Acute hepatic failure, Splenomegaly, Na... ORPHA:342
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ... ORPHA:486
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res... ORPHA:922
Wolman Disease
Abdominal distention, Hepatomegaly, Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly OMIM:620151
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Cleft palate, Feeding difficulties, Weight loss, Microglossia, Nasogastric ... ORPHA:141152
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Cirrhosis, Hepatomegaly, Diarrhea, Hepatic failure, Vomi... OMIM:602579
Lipoid Proteinosis
Thick lower lip vermilion, Acne, High palate, Nasal polyposis, Abnormality of the gingiva, Abnorm... ORPHA:530
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Pneumonia, Liver abscess, Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arth... ORPHA:183675
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Rhinitis, Recurrent sinusi... OMIM:615505
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Chronic diarrhea, Failure to thrive, Fat malabsorption OMIM:613291
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Nasal polyposis, Abnormality of the liver, A... ORPHA:252164
Microscopic Polyangiitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Abdominal pain... ORPHA:727
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Gastrointestinal Stromal Tumor
Constipation, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Short stature, Polycystic ovaries, Decreased fertility, Hypog... ORPHA:1643
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Riddle Syndrome
Short stature, Pulmonary fibrosis OMIM:611943
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Atelectasis, Hypospadias, Glandular hypospadias, High palate, Bifid sc... OMIM:300219
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Microsporidiosis
Intermittent diarrhea, Chronic diarrhea, Cachexia, Sinusitis, Biliary tract abnormality, Myocardi... ORPHA:2552
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Glossitis, Abdominal pain, Diarrhea, Cachexia, Hamartomatou... OMIM:175500
Ovarian Fibrothecoma
Abdominal distention, Ovarian fibroma, Abdominal pain, Ascites, Abnormality of the ovary, Periton... ORPHA:314478
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Igg4-Related Aortitis
Intestinal obstruction, Increased inflammatory response, Weight loss, Abdominal pain ORPHA:449400
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio... OMIM:615518
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatomegaly, Minimal change glomerulonephritis, Myositis, Eczematoid dermatitis, Recurrent viral... OMIM:620565
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Intestinal obstruction, Gastroesophageal reflux, Myositis, Abdominal pain, Skin rash... ORPHA:183
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Recurrent otitis media, Recurrent lower respiratory tract infections, Chr... OMIM:600802
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, Atelectasis OMIM:615872
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Abdominal pain, Peritonitis, Periorbital edema, Edema, Hypoalb... ORPHA:656
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Intermittent diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Diarrhea, Abd... OMIM:603041
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility, Acne OMIM:604931
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Recurrent infections, Pyloric stenosis, Constipation, Failure to thrive, Recurrent ... OMIM:613327
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Usual inter... OMIM:178500
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri... OMIM:615978
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Malformation of the hepati... OMIM:607361
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Minimal change glomerulonephritis... ORPHA:567548
Necrotizing Enterocolitis
Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Asc... ORPHA:391673
Mulibrey Nanism
Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation ORPHA:2576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Recurrent opportunistic infections, B lympho... OMIM:601457
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Megaloblastic anemia, Exocrine pancreatic insuffic... ORPHA:309108
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Chronic diarrhea, Atopic dermatitis, Disseminated mo... OMIM:617638
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Recurrent infections, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopo... OMIM:615285
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Dynein arm defect of respiratory motile cilia, Bronchie... OMIM:614679
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:615451
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis OMIM:618648
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the spleen, In... ORPHA:93941
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel... ORPHA:913
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Decreased serum leptin, Decreased testicular size, Primary amenorrhea, ... OMIM:614962
Familial Mediterranean Fever, Autosomal Dominant
Abdominal pain, Erysipelas, Peritonitis OMIM:134610
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Bron... OMIM:613193
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Short stature, Cleft palate, Hypoplasia of the uterus OMIM:601076
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Monocytopenia, Bronchiectasis, Sinusitis, Neutrophilia, Th... OMIM:226990
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Alexander Disease Type I
Vomiting, Cachexia, Failure to thrive, Dysphagia ORPHA:363717
Familial Mediterranean Fever
Hepatomegaly, Diarrhea, Crohn's disease, Abdominal pain, Arthritis, Leukocytosis, Episodic abdomi... OMIM:249100
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Abdominal pain, Ascites, Malabsorption, Splenomegaly, Abnormal small ... ORPHA:100025
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Anorexia, Weight loss, Adrenocorticotropic hormone excess ORPHA:100083
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Vomiting, Constipation, Failure to thrive, Ileus, Feeding difficulties in ... OMIM:300352
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Short sta... OMIM:266265
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Elevated circ... ORPHA:2070
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Pulmonary fibrosis OMIM:620400
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Portal fibrosis, Episodic vomiting, Microvesicular hepatic ste... OMIM:619377
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarr... ORPHA:71
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Recurrent bacterial skin i... ORPHA:217390
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Oligodontia, Choles... OMIM:607626
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Edema, Elevated circulating creatinine concentration, Myocarditis, Hypocalc... ORPHA:36234
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:615504
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Erythema nodosum, Pleural ef... OMIM:612387
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent respiratory infections, Re... OMIM:613493
Caroli Disease
Cholestasis, Ascites, Biliary cirrhosis, Splenomegaly, Anorexia, Jaundice, Intrahepatic cholestas... ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Failure to thrive, Secretory diarrhea, Splenomegaly,... OMIM:616050
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:617092
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Recurrent otitis media, Cholelithiasis, Everted lower lip vermilion, Obesity, Cleft... OMIM:301066
Athyreosis
Abdominal distention, Hypothyroidism, Constipation, Growth delay, Short stature, Feeding difficul... ORPHA:95713
Visceral Myopathy 1
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... OMIM:155310
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Abnormal stomach morphology, Atel... ORPHA:2357
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... OMIM:312300
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Q Fever
Myocarditis, Anorexia, Pneumonia, Hepatomegaly, Elevated circulating hepatic transaminase concent... ORPHA:781
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Recurrent staphylococca... OMIM:607676
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Castleman Disease
Intestinal obstruction, Abdominal distention, Jaundice, Abnormality of the gastrointestinal tract... ORPHA:160
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Conjunctivitis, Recurrent bact... OMIM:612692
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Inappropriate laughter, Dysphagia, Motor stereotypy, Feeding d... ORPHA:85278
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Severe infec... ORPHA:464370
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... ORPHA:79301
Immunodeficiency 102
Sepsis, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropenia in p... OMIM:301082
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Abnormal central microtubular pair morphology of respirato... OMIM:612649
Porphyria, Acute Intermittent
Diarrhea, Abdominal pain, Hepatocellular carcinoma, Vomiting, Nausea, Constipation, Paralytic ileus OMIM:176000
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Meningitis, Sinusitis, ... ORPHA:33110
Combined Oxidative Phosphorylation Defect Type 7
Gastrostomy tube feeding in infancy, Paralytic ileus, Failure to thrive, Oral-pharyngeal dysphagia ORPHA:254930
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intest... OMIM:300048
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Atelectasis OMIM:619466
Felty Syndrome
Chronic otitis media, Sepsis, Anemia, Recurrent pharyngitis, Pleuritis, Recurrent infections, Art... ORPHA:47612
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Failure to thrive, Splenomegaly, Cholecyst... OMIM:615512
Pai Syndrome
Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Bifid uvula, Clef... ORPHA:1993
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, High palate, Ileus OMIM:620156
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Epididymitis, Recurrent bacterial infections OMIM:608106
Meckel Syndrome, Type 2
Intestinal malrotation, Cleft palate, Bile duct proliferation OMIM:603194
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Recurrent infections, Microcolon, Peritonitis, Pyelonephritis OMIM:619351
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Ch... OMIM:240300
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Diarrhea, Accumulation of lipid droplets in small-bowel enteroc... OMIM:246700
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Abnormal intestine morphology, Vomiting, Failure to thrive, Feeding difficulties in inf... OMIM:606528
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Rectal abscess, B lymphocytopenia, Recurr... OMIM:601495
Familial Pancreatic Carcinoma
Anorexia, Intermittent diarrhea, Jaundice, Elevated circulating hepatic transaminase concentratio... ORPHA:1333
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... OMIM:613808
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Recurrent infections, Chronic diarrhea, Short stature, Malabsorption, Hyp... OMIM:601675
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, High palate, Anal atresia, ... OMIM:154230
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Allergic rhinitis, Atopic der... OMIM:243700
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Duodenitis, Blepharitis, Pustule, Failure to thrive, Erythroderma, Villous atrophy OMIM:614328
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Nasal polyposis, Bronchiectasis, Rhinitis, Recurrent sinusitis, Absent in... OMIM:614935
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Recurrent respiratory infections, Severe short stature, Neutropenia ORPHA:2643
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent respiratory infections, Persistent CMV viremia, Persistent EBV ... OMIM:300853
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Decreased proportion of CD8-positive T cells, Recu... ORPHA:169154
Metachromatic Leukodystrophy
Tip-toe gait, Abnormal stomach morphology, Hemobilia, Gait disturbance, Bowel incontinence, Ataxi... ORPHA:512
Scedosporiosis
Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection... ORPHA:449280
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Recurr...