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Gene: Cftr MGI:88388

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cystic fibrosis transmembrane conductance regulator
Synonyms:
Abcc7

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 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 associated to Cftr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Steatorrhea, Meconium ileus, Diarr... OMIM:219700
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Abnormal respiratory system physiology, Crackles, Acute infectious pneumo... ORPHA:60033
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Cystic Fibrosis
Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:586
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens ORPHA:48
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Abdominal pain, Steatorrhea, Pancreatic pseudocy... OMIM:167800
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens OMIM:277180
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Abdominal pain, Recurrent pancreatitis ORPHA:676
Aquagenic Palmoplantar Keratoderma
Palmoplantar hyperhidrosis, Atopic dermatitis, Edema ORPHA:498359

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Growth delay, Recurrent pneumonia, Recurrent otitis media OMIM:243110
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
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Short stature, Recurrent bacterial infections, Recurrent otitis media, Recurrent res... OMIM:616022
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Peri... ORPHA:131
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Neutropenia, Recurrent respiratory infec... OMIM:300988
Hirschsprung Disease
Constipation, Abdominal pain, Short stature, Diarrhea, Failure to thrive in infancy, Intestinal o... ORPHA:388
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurr... OMIM:613501
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Respiratory insufficiency, Inflammation of the large intestine, Abn... ORPHA:26790
Malignant Peritoneal Mesothelioma
Ileus, Abdominal distention, Abdominal pain, Peritonitis, Pedal edema, Weight loss, Ascites ORPHA:168811
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Cough, Weight loss, Dysphagia, O... ORPHA:70482
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:617690
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Steatorrhea, Meconium ileus, Diarr... OMIM:219700
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... ORPHA:2869
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Whim Syndrome 2
Severe infection, Chronic neutropenia, Recurrent gingivitis OMIM:619407
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Us... OMIM:616373
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Atresia Of Small Intestine
Failure to thrive, Abdominal distention, Feeding difficulties, Short stature, Intestinal malrotat... ORPHA:1201
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Nausea and vomiting, Abnor... ORPHA:2198
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... OMIM:613662
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Respiratory insufficiency OMIM:260530
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Cough, Decreased D... OMIM:616371
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... ORPHA:543
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:614129
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... OMIM:602347
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Desmoid Tumor
Malabsorption, Abdominal pain, Desmoid tumors, Sepsis, Intestinal obstruction, Intestinal polypos... ORPHA:873
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Abdominal distention, Abdominal ... ORPHA:83469
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Neuroendocrine Neoplasm Of Appendix
Asthma, Bowel urgency, Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Consti... ORPHA:100079
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Secondary Short Bowel Syndrome
Constipation, Steatorrhea, Small intestinal dysmotility, Diarrhea, Vomiting, Cholestasis, Weight ... ORPHA:95427
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Abdominal distention, Splenomegaly, Steatorrhea, Hepatic fai... ORPHA:75233
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Recurrent sinusitis, Chronic rhinitis... OMIM:612444
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent ot... OMIM:613502
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... OMIM:620032
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Growth delay, Abnormal intestine morphology OMIM:251850
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Recurrent bacter... OMIM:202700
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Idiopathic Achalasia
Gastroesophageal reflux, Cough, Wheezing, Recurrent aspiration pneumonia, Malnutrition, Dysphagia... ORPHA:930
Immunodeficiency 104
Gastroesophageal reflux, Otitis media, Eczema, Recurrent opportunistic infections, Diarrhea, Chro... OMIM:608971
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea, Acne OMIM:615363
Combined Immunodeficiency, X-Linked
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decr... OMIM:312863
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Ppoma
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... ORPHA:97278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Abdominal pain, Diarrhea, Vomiting, Intestinal obst... OMIM:226300
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Severe infection, Eczema, Glomerulonephritis, Arthritis, Villous atroph... OMIM:304790
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Asthma, Eosinophilia, Pneumonia OMIM:617638
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 9
Failure to thrive, Villous atrophy, Diarrhea OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy OMIM:613217
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Nasal polyposis, Multiple gastric... OMIM:175200
Adenomyosis
Adenomyosis, Dysmenorrhea OMIM:600458
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Sepsis, Vomiting, Cholestasis, Myocard... ORPHA:810
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Constipation, Abdominal pain, Hypopigmentation of hair, Intestinal o... ORPHA:897
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Art... ORPHA:343
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abdominal distention, Polycystic liver dis... ORPHA:2924
Cyclic Neutropenia
Sinusitis, Periodontitis, Enterocolitis, Abdominal pain, Opportunistic infection, Recurrent tonsi... ORPHA:2686
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Nau... ORPHA:65682
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Ovarian Fibroma
Mesenteric cyst, Abdominal distention, Abdominal pain, Peritonitis, Odontogenic keratocysts of th... ORPHA:314473
Gallbladder Neuroendocrine Tumor
Episodic abdominal pain, Extrahepatic cholestasis, Abdominal distention, Anorexia, Cholecystitis,... ORPHA:100086
Mantle Cell Lymphoma
Anorexia, Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Cirrhosis... ORPHA:90003
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neu... OMIM:193670
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Oligomenorrhe... OMIM:615300
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... OMIM:619445
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Gastritis, Sepsis, Eczema, Vomiting, Pneumonia, ... ORPHA:37042
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... OMIM:618986
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... OMIM:243150
Grfoma
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... ORPHA:97261
Congenital Short Bowel Syndrome
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... OMIM:615237
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, Neutropenia, Anemia,... OMIM:616740
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Recurrent bronchopulmonary infections, Gastritis, Meconium ile... OMIM:219721
Malignant Atrophic Papulosis
Abdominal pain, Arteritis, Nausea and vomiting, Peritonitis, Gastrointestinal infarctions, Intest... ORPHA:679
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Chronic bronchitis, Neona... OMIM:615505
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropath... OMIM:615863
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... OMIM:618801
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Diarr... OMIM:615710
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ut... ORPHA:243
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Pleural empyema, Diarrhea, Constrictive pericardi... ORPHA:67
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice OMIM:613470
Asherman Syndrome
Infertility, Episodic abdominal pain, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of ... ORPHA:137686
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Failure to thrive OMIM:613559
Radiation Proctitis
Rectal fistula, Sepsis, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum ... ORPHA:70475
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Short stature, Cachexia, Aganglionic megacolon ORPHA:52503
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... ORPHA:1876
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Somatostatinoma
Constipation, Hepatomegaly, Steatorrhea, Neoplasm of the small intestine, Diarrhea, Increased cir... ORPHA:97283
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Recurrent infections, Neutropenia, Anemia... OMIM:615285
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Stomach cancer, Splenomegaly, Cachexia, Anorexia, Di... ORPHA:2930
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Carney-Stratakis Syndrome
Abdominal pain, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia, Gastrointestina... ORPHA:97286
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Satoyoshi Syndrome
Amenorrhea, Malabsorption, Hypoplasia of the uterus, Short stature, Diarrhea OMIM:600705
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Naso... ORPHA:141152
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis OMIM:178550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, T lymphoc... OMIM:601457
Neutropenia, Chronic Familial
Periodontitis, Neutropenia OMIM:162700
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615451
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... ORPHA:3130
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Vomiting, Malabsorption, Intussusception, Cirrhosis, Lymphedema, Edem... ORPHA:90363
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Hepatic amyloidosis, Abnormal salivary gland morphology, Gastrointesti... ORPHA:314652
Hydatidiform Mole
Nausea and vomiting, Enlarged uterus, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Abnormal respiratory system physiology, Crackles, Acute infectious pneumo... ORPHA:60033
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... ORPHA:3032
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... OMIM:617092
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism OMIM:212840
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Glucose/Galactose Malabsorption
Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:222800
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Hypog... ORPHA:85450
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Splenomegaly, Pneumonia, Absence of CD8-posi... OMIM:269840
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... OMIM:619220
Intrahepatic Cholestasis Of Pregnancy
Abdominal pain, Small for gestational age, Abnormality of the pancreas, Cholecystitis, Elevated h... ORPHA:69665
Cystic Disease Of Lung
Spontaneous neonatal pneumothorax, Recurrent infections, Multiple pulmonary cysts OMIM:219600
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Congenital Hypothyroidism
Sinusitis, Constipation, Abdominal distention, Macroglossia, Depressed nasal ridge, Thyroid dysge... ORPHA:442
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Weight loss ORPHA:168816
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Hypokalemia, Pancreatitis, Intussusception, Abdominal pain, Perit... ORPHA:90038
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Familial Mediterranean Fever
Malabsorption, Orchitis, Pancreatitis, Constipation, Splenomegaly, Skin rash, Nausea and vomiting... ORPHA:342
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Cleft p... ORPHA:247768
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Weight loss, Abnormal circulating poly... ORPHA:103910
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Recurrent upper respiratory tract infections, Intestinal obstruction, Recurren... OMIM:600802
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Seckel Syndrome 7
Hypoplasia of the uterus, Severe short stature, Primary amenorrhea, Intrauterine growth retardati... OMIM:614851
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia OMIM:615872
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:235700
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... OMIM:614602
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Abdominal pain, Hepatic failure, Splenomegaly, Cirrhosis, Small for... ORPHA:567983
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Meningitis, Absent circulating B cells, Recurrent respiratory infections, Tr... OMIM:619707
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Recurrent bacterial infection... OMIM:607594
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid OMIM:613291
Infantile Myofibromatosis
Intestinal obstruction, Tracheoesophageal fistula, Abnormal intestine morphology, Neoplasm of the... ORPHA:2591
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... OMIM:612649
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... ORPHA:30391
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Abdominal distention, Short stature, Increased hep... ORPHA:369
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atopic dermatitis, C... ORPHA:183675
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Hirschsprung Disease, Susceptibility To, 1
Constipation, Enterocolitis, Abdominal distention, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Glucagonoma
Constipation, Hepatomegaly, Steatorrhea, Diarrhea, Increased circulating prolactin concentration,... ORPHA:97280
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Infectious encephalitis, We... ORPHA:42642
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Chylous Ascites
Abnormal intestine morphology, Ascites, Pancreatitis ORPHA:1160
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Myotubular Myopathy With Abnormal Genital Development
High palate, Respiratory distress, Ambiguous genitalia, male, Feeding difficulties, Bifid scrotum... OMIM:300219
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia, Recurrent otitis media, Neonatal respira... OMIM:608644
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Uveitis, ... OMIM:612387
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Constipation, Skin rash, Splenomegaly, Abdominal pain, Peritonitis, Diarrhea, Vomiting,... ORPHA:32960
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Abdominal pain, Respiratory... ORPHA:183
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous at... OMIM:209920
Zygomycosis
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615504
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... ORPHA:486
Primary Ciliary Dyskinesia
Female infertility, Intestinal malrotation, Chronic otitis media, Chronic rhinitis, Nasal congest... ORPHA:244
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Fat malabsorption, Ja... OMIM:211600
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... OMIM:613193
Benign Cephalic Histiocytosis
Histiocytosis, Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... OMIM:608104
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Respiratory insufficiency, Abnormality o... ORPHA:93941
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Recurrent infections, Pneumonia, Growth delay OMIM:614069
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Igg4-Related Aortitis
Asthma, Abdominal pain, Intestinal obstruction, Increased inflammatory response, Weight loss ORPHA:449400
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... ORPHA:2552
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... OMIM:616726
Lipoid Proteinosis
High palate, Pustule, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules... ORPHA:530
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Neonatal respirat... OMIM:613808
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Jejunal Atresia
Jejunal atresia OMIM:243600
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Failure to thrive, Splenomegaly, Respiratory insufficiency,... OMIM:615512
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... OMIM:619611
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Anorexia, Exertional dyspnea, Weight loss, Oral-pharyngeal dy... ORPHA:100083
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Xp22.3 Microdeletion Syndrome
Ectopic anus, Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovar... ORPHA:1643
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Pulmonary embolism, Cholecystitis, Intestinal polypos... ORPHA:774
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Episodic abdominal pain, Absence of pubertal developm... ORPHA:785
Congenital Pancreatic Cyst
Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting, Jaundice ORPHA:313906
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Failure to thrive, Hepatomegaly, Constipation, Feeding difficulties, Splenomegaly, Pyloric... OMIM:613327
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... OMIM:613493
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Diarrhea, Vomiting, Vil... OMIM:602579
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Gastrointestinal Stromal Tumor
Intestinal obstruction, Dysphagia, Constipation, Gastrointestinal stroma tumor OMIM:606764
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Abdominal pain, Nausea and vomiting, Peritonitis, Diarrhea, A... ORPHA:727
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma,... OMIM:613490
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Ovarian Fibrothecoma
Abdominal distention, Abdominal pain, Metrorrhagia, Peritonitis, Ovarian fibroma, Ascites, Abnorm... ORPHA:314478
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Diarrhea, Hematochezia, Pituitary prolactin cell adenoma, ... ORPHA:913
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea, Acne OMIM:604931
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... ORPHA:922
Genetic Steroid-Resistant Nephrotic Syndrome
Abdominal pain, Peritonitis, Hypoalbuminemia, Periorbital edema, Edema, Minimal change glomerulon... ORPHA:656
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Q Fever
Respiratory distress, Osteomyelitis, Hepatomegaly, Splenomegaly, Anorexia, Maculopapular exanthem... ORPHA:781
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abdominal pain, Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypo... ORPHA:567548
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Small for gestational age, Peritonitis, Diarrhea, Vomiting... ORPHA:391673
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology, Nasal pol... ORPHA:252164
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Elevated pulmonary artery pressure, Respiratory failure requir... OMIM:619351
Porphyria, Acute Intermittent
Paralytic ileus, Constipation, Abdominal pain, Respiratory paralysis, Diarrhea, Hepatocellular ca... OMIM:176000
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Mulibrey Nanism
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature ORPHA:2576
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:608647
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615500
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... OMIM:607361
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Abdominal cramps, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... OMIM:603041
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pulmonary hemorrhage, Giant platelets, Neutropenia, Pneumonia, T... ORPHA:238459
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Short stature, Otitis media, Sepsis, Abnormal lymphocyte morphology, Arthri... ORPHA:229717
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... OMIM:175500
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Neonatal respiratory dis... OMIM:617091
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Osteootohepatoenteric Syndrome
Asthma, Failure to thrive, Microvesicular hepatic steatosis, Abdominal pain, Episodic vomiting, I... OMIM:619377
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Abdominal pain OMIM:134610
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... ORPHA:464370
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Familial Mediterranean Fever
Crohn's disease, Hepatomegaly, Orchitis, Episodic abdominal pain, Splenomegaly, Abdominal pain, P... OMIM:249100
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Chylomicron Retention Disease
Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transa... ORPHA:71
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... OMIM:240300
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... ORPHA:77297
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... ORPHA:33110
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Short stature, Azoospermia OMIM:601076
Trichothiodystrophy 1, Photosensitive
Asthma, Malabsorption, Small for gestational age, Short stature, Intestinal obstruction, Recurren... OMIM:601675
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Abdominal pain, Steatorrhea... ORPHA:2070
Leptin Deficiency Or Dysfunction
Micropenis, Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum lep... OMIM:614962
Immunodeficiency 31C
Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morpholo... OMIM:614162
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... ORPHA:2235
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... OMIM:612692
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... ORPHA:231401
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Castleman Disease
Abdominal distention, Abdominal pain, Nausea and vomiting, Abnormality of the gastrointestinal tr... ORPHA:160
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Short stature, Bronchiolitis, Pneumonia, Recurrent otitis media, Red... OMIM:266265
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... ORPHA:347
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small... ORPHA:100025
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Abdominal rigidity, Vomiting, Cholestasis, Esop... ORPHA:53035
Cleft Velum
Nasal regurgitation, Velopharyngeal insufficiency, Aspiration pneumonia, Poor suck, Recurrent oti... ORPHA:99772
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Diarrhea, Vomiting, Myocarditis, Severe viral infection, Pneumonia,... ORPHA:36234
Felty Syndrome
Sinusitis, Rhinitis, Splenomegaly, Sepsis, Recurrent urinary tract infections, Chronic otitis med... ORPHA:47612
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... ORPHA:231154
Cerebral Creatine Deficiency Syndrome 1
Ileus, Failure to thrive, Constipation, Vomiting, Feeding difficulties in infancy, Aganglionic me... OMIM:300352
Whipple Disease
Malabsorption, Polydipsia, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Respir... ORPHA:3452
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Recurrent viral infections, Stomatitis, Recurrent gastroenteritis OMIM:618648
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Riddle Syndrome
Pulmonary fibrosis, Short stature OMIM:611943
Athyreosis
Abdominal distention, Constipation, Feeding difficulties, Macroglossia, Short stature, Hypothyroi... ORPHA:95713
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... OMIM:208540
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Gastropa... OMIM:619223
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Constipation, Abdominal distention, Long philtrum, Open mouth, Crypto... OMIM:600096
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Recurrent sinusitis, R... OMIM:601495
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatomegaly, Cleft palate, Everted lower lip vermilion, Open mouth, Hepatospleno... OMIM:301066
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Respiratory insufficiency, Pancreatitis OMIM:618230
Ciliary Dyskinesia, Primary, 17
Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar... OMIM:614679
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Listeriosis
Respiratory distress, Diarrhea, Vomiting, Myocarditis, Pneumonia, Pericarditis, Respiratory failu... ORPHA:533
Androgen Insensitivity, Partial
Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogonadism, Azoospe... OMIM:312300
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Meckel diverticulum OMIM:300864
Immunodeficiency 75
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurr... OMIM:619126
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, B lymphocytopen... OMIM:301078
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... OMIM:154230
Combined Oxidative Phosphorylation Defect Type 7
Gastrostomy tube feeding in infancy, Paralytic ileus, Failure to thrive, Oral-pharyngeal dysphagia ORPHA:254930
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Feeding difficultie... OMIM:616050
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Recurrent infections, Neutropenia, Anemia, Intrauterine growth retardation OMIM:617056
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Lymphopenia, Recurrent skin infections, Recurrent upper respiratory tract infections, Ato... OMIM:619752
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Chronic d... OMIM:614379
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Us... OMIM:614742
Meckel Syndrome, Type 2
Intestinal malrotation, Bile duct proliferation, Cleft palate OMIM:603194
Thyroid Hemiagenesis
Abdominal distention, Constipation, Macroglossia, Growth delay, Jaundice ORPHA:95719
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Liver abscess, Transient... OMIM:607676
Gaucher Disease, Type Ii
Failure to thrive, Apnea, Hepatomegaly, Feeding difficulties, Splenomegaly, Recurrent aspiration ... OMIM:230900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Depressed nasal bridge, Long philtrum, Congenital hypo... OMIM:610199
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Complete Androgen Insensitivity Syndrome