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 associated to Cftr by orthology or direct annotation.

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
Recurrent otitis media, Recurrent pneumonia, Growth delay OMIM:243110
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Short stature, Recurrent otitis media, Recurrent res... OMIM:616022
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Recurrent bronchitis, Chronic furunculosis, Chronic ora... OMIM:613953
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... ORPHA:131
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Neutropenia OMIM:615214
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Growth delay, Weight loss, Intestinal obstruction, Crohn's d... OMIM:266600
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent otitis media, Chronic sinusitis, Recurrent... OMIM:613502
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Immunodeficiency 50
Eczema, Neutropenia, Recurrent urinary tract infections, Lymphopenia, Recurrent respiratory infec... OMIM:300988
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurr... OMIM:613501
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Short stature, Function... ORPHA:388
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Respiratory insufficiency, Ascites, Wei... ORPHA:26790
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Abdominal distention, Weight loss, Pedal edema, Ileus, Abdominal pain ORPHA:168811
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia, Short stature ORPHA:90023
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... OMIM:193250
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Ovarian Dysgenesis 5
Primary amenorrhea, Short stature, Hypoplasia of the uterus OMIM:617690
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Abdominal distention, Malabso... OMIM:613662
Cystic Fibrosis
Rectal prolapse, Hepatosplenomegaly, Steatorrhea, Meconium ileus, Diarrhea, Recurrent bronchopulm... OMIM:219700
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Cough, Barrett esopha... ORPHA:70482
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Abnormality of the nose, Gastrointestinal hemor... ORPHA:2869
Immunodeficiency 35
Recurrent fungal infections, Recurrent respiratory infections, Recurrent mycobacterial infections... OMIM:611521
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Neutropenia, Pneumonia, Bronchiecta... OMIM:601495
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Decreased DLCO, Pulmonary fibrosis, Reduced force... OMIM:616373
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis media, ... OMIM:612692
Atresia Of Small Intestine
Intrauterine growth retardation, Vomiting, Short stature, Failure to thrive, Feeding difficulties... ORPHA:1201
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... ORPHA:2032
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Reduced forced expiratory volume in one second, Cough, Decreased DLCO, Pulmonary ... OMIM:616371
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Respiratory insufficiency OMIM:260530
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ... ORPHA:69663
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Abnormal large intestine morphology, Esop... ORPHA:2198
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Short stature OMIM:610798
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Nausea and vomiting, Abnormality of the lymp... ORPHA:543
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism OMIM:614129
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Recurrent infections, Recurrent respiratory infections OMIM:226990
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Lactose Intolerance, Adult Type
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... OMIM:223100
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Arthritis, Recurrent respiratory infectio... OMIM:300310
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
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Malabsorpt... OMIM:602347
Immunodeficiency 55
Eczema, Neutropenia, Intrauterine growth retardation, Short stature, Recurrent infections, Recurr... OMIM:617827
Desmoid Tumor
Sepsis, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Intes... ORPHA:873
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Nausea and vomiting, Ovarian neoplasm, Cachexia, Abdominal distention, Weight loss,... ORPHA:83469
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Nausea and vomiting, Midgut malrotation, Anorexia, Bowel urgency, Hypoactive bowel ... ORPHA:100079
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... OMIM:618806
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Secondary Short Bowel Syndrome
Abdominal distention, Volvulus, Primary hypothyroidism, Steatorrhea, Malnutrition, Small intestin... ORPHA:95427
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Wolman Disease
Hepatomegaly, Cachexia, Adrenal insufficiency, Nausea and vomiting, Esophageal varix, Ascites, Gr... ORPHA:75233
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium, Abdominal distention OMIM:616868
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent i... OMIM:608971
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Estrogen Resistance
Hyperinsulinemia, Acne, Primary amenorrhea, Hypoplasia of the uterus OMIM:615363
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media, Decreased proportion of CD4-positive he... OMIM:312863
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Chronic diarrhea, Abnormal smal... ORPHA:103907
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Ppoma
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Gast... ORPHA:97278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Abnormal intestine morphology, Hypoproteinemia, Pneumonia, Vomiting, Ascites, Edema... OMIM:226300
Immunodeficiency 48
Eczematoid dermatitis, Diarrhea, Recurrent candida infections, Pneumonia OMIM:269840
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Abdominal distention, Abdominal pain, Constipation ORPHA:168829
Idiopathic Achalasia
Wheezing, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Cough, Malnutrition, Gastroesop... ORPHA:930
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Rhinitis, Respiratory insuff... OMIM:608647
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis ORPHA:3347
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Villous atrophy, Failure to thrive, Hepatitis, Arthritis, Chronic diarrhea,... OMIM:304790
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea OMIM:613217
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Isolated Polycystic Liver Disease
Hepatomegaly, Feeding difficulties in infancy, Respiratory insufficiency, Abdominal distention, P... ORPHA:2924
Shigellosis
Myocarditis, Sepsis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Bloody mucoid diarrhea, V... ORPHA:810
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina... ORPHA:343
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithia... ORPHA:65682
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis medi... OMIM:300455
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Gallbladder Neuroendocrine Tumor
Anorexia, Ascites, Nausea, Biliary tract obstruction, Biliary tract neoplasm, Abdominal distentio... ORPHA:100086
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Weight loss, Abdominal distention, Abnormal liver sonography, Neoplasm of the l... ORPHA:90003
Cyclic Neutropenia
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Recurrent tonsillitis, Periodontitis, Pe... ORPHA:2686
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Ascites, Peritonitis, Abdominal dis... ORPHA:314473
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Central apnea, Abnormal repro... ORPHA:1916
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Perrault Syndrome 4
Secondary amenorrhea, Cleft palate, Oligomenorrhea, Hypoplasia of the ovary, Increased circulatin... OMIM:615300
Mantle Cell Lymphoma
Weight loss, Anorexia, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia, Bronch... OMIM:193670
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea, Malnutrition OMIM:251850
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Bronchiectasis, Dependency on parenteral nutrition, Abdominal distenti... OMIM:619445
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Chronic bronchitis, Neutropenia, Hepatosplenomegaly, P... OMIM:618986
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Intestinal obstruction, Abdominal pain, Con... ORPHA:897
Grfoma
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Gast... ORPHA:97261
Peutz-Jeghers Syndrome
Rectal prolapse, Oral melanotic macule, Precocious puberty with Sertoli cell tumor, Biliary tract... OMIM:175200
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent sinopulmonary infections, Re... OMIM:243700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... OMIM:150550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Recurrent... ORPHA:37042
Immunodeficiency 17
Eczema, Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Recurrent respi... OMIM:615607
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Weight loss, Abdominal diste... ORPHA:298
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... OMIM:618801
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Anemia, Interm... OMIM:616740
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent resp... OMIM:605258
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Biliary tract obstruction, Recurrent bronchopulmonary infections, Gastritis, Recurrent pneumonia,... OMIM:219721
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, Cirrhosis, Hepatic ... OMIM:602579
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
Ciliary Dyskinesia, Primary, 27
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615504
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Splenomeg... OMIM:618495
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... ORPHA:679
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Jejunal... OMIM:615710
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Short stature, Increased ci... ORPHA:243
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis OMIM:279000
Combined Oxidative Phosphorylation Deficiency 7
Failure to thrive, Paralytic ileus OMIM:613559
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... OMIM:610921
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Extramedullary hematopoiesis... OMIM:615285
Somatostatinoma
Increased circulating cortisol level, Neoplasm of the small intestine, Gastrointestinal hemorrhag... ORPHA:97283
Radiation Proctitis
Sepsis, Tenesmus, Abnormality of gastrointestinal vasculature, Rectal fistula, Intestinal obstruc... ORPHA:70475
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
X-Linked Creatine Transporter Deficiency
Cachexia, Aganglionic megacolon, Short stature, Ileus, Constipation ORPHA:52503
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage OMIM:178550
Satoyoshi Syndrome
Short stature, Amenorrhea, Malabsorption, Diarrhea, Hypoplasia of the uterus OMIM:600705
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Vomiting, Ascites, Failure to thrive, Abdominal di... OMIM:608104
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections, Nas... OMIM:617092
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Intestinal obstruction, Gastrointestinal h... ORPHA:97286
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Arthritis, Punct... ORPHA:92050
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Ma... ORPHA:2930
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Short stature, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Neutropenia, Chronic Familial
Periodontitis, Neutropenia OMIM:162700
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Feeding difficulties, Weight loss, Microglossia, Nasogastric tube feeding in infanc... ORPHA:141152
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Failure to thrive, Hypercholesterolemia, Hypoalbuminem... OMIM:615863
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Gastrointestinal Stromal Tumor
Nausea and vomiting, Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm ... ORPHA:44890
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Lymphopenia, Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Hepatosplenomegaly, Gastrointestinal hemorrhage, Male... ORPHA:85450
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Congenital Hypothyroidism
Sinusitis, Depressed nasal ridge, Feeding difficulties in infancy, Abnormality of reproductive sy... ORPHA:442
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Cleft palate, Increased serum testosterone ... ORPHA:247768
Glucose/Galactose Malabsorption
Failure to thrive, Abdominal distention, Malabsorption, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Erythrocytosis, Familial, 8
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:222800
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Weight loss, Abdominal distention, Diarrh... ORPHA:160148
Cystic Disease Of Lung
Spontaneous neonatal pneumothorax, Multiple pulmonary cysts, Recurrent infections OMIM:219600
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Ascites, Small for gestational age, Abnormality of the pancreas, C... ORPHA:69665
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Gastrointestinal infarctions, Intestinal perforation, Abnorma... ORPHA:314652
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence... ORPHA:572
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Cleft palate, Azoospermia, Hypogonadotropic hypogo... ORPHA:432
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:266200
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, ... OMIM:614602
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforat... OMIM:603041
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Bloody diarrhea, Rectal prolapse, Unconjugated hyperbilirubinemia, Vomiting, Perito... ORPHA:90038
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Constipation ORPHA:168816
Seckel Syndrome 7
Central hypothyroidism, Intrauterine growth retardation, Severe short stature, Primary amenorrhea... OMIM:614851
Familial Mediterranean Fever
Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Ascites, Peritonitis, Lymphadeno... ORPHA:342
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Dehydration, Abdominal distention, Edema, Weig... ORPHA:103910
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splen... ORPHA:567983
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:235700
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ... ORPHA:3032
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Cirrhosis, Familial
Esophageal varix, Abdominal distention, Pulmonary arterial hypertension, Micronodular cirrhosis, ... OMIM:215600
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci... OMIM:619662
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Recurrent oti... OMIM:619436
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Neoplasm of the pancreas, Tracheoesophagea... ORPHA:2591
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Failure to thrive, Recurrent otitis media, Recurrent lower respiratory tract infection... OMIM:600802
Hydatidiform Mole
Nausea and vomiting, Enlarged uterus, Spontaneous abortion, Menometrorrhagia, Hyperthyroidism ORPHA:99927
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Lipoid Proteinosis
Thick lower lip vermilion, Dystonia, Dysphagia, High palate, Pustule, Tongue nodules, Microglossi... ORPHA:530
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, High palate, Bifid scrotum, Unilateral cryptorchidism, Feeding difficulties, Neonata... OMIM:300219
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Poikiloderma With Neutropenia
Neutropenia, Short stature, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blephariti... OMIM:604173
Glycogen Storage Disease Xii
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:611881
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... OMIM:614470
Glucagonoma
Stomatitis, Increased circulating cortisol level, Gastrointestinal hemorrhage, Primary hyperparat... ORPHA:97280
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Cortisone Reductase Deficiency 1
Acne, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
3-Methylglutaconic Aciduria, Type Vii
Growth delay, Recurrent infections, Neutropenia OMIM:616271
Pfapa Syndrome
Hepatomegaly, Nausea and vomiting, Infectious encephalitis, Weight loss, Malabsorption, Arthritis... ORPHA:42642
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... OMIM:618254
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Ascites ORPHA:1160
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Ciliary Dyskinesia, Primary, 13
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Absent outer dynein arms, Ab... OMIM:613193
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... ORPHA:217390
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Vomiting, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Intestinal obs... ORPHA:32960
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Dysphagia, Nausea and vomiting, Tubulointerstitial nephritis, Respiratory... ORPHA:183
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Failure to thrive, Inc... ORPHA:369
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Villous atrophy, Colitis, Protracted diarrhea, Failure to t... OMIM:209920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, High palate, Growth delay, Pneumonia, Recurrent infections OMIM:614069
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent otiti... OMIM:615518
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Fasciitis, Hepatitis, Melena, Gastritis... ORPHA:73263
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrh... ORPHA:79301
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emp... OMIM:604571
Ciliary Dyskinesia, Primary, 28
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615505
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Abnormal central microtu... OMIM:612650
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Short stature, Ambiguous ge... ORPHA:90796
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism OMIM:607080
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... OMIM:608644
Ciliary Dyskinesia, Primary, 15
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Estrogen Resistance Syndrome
Absence of pubertal development, Acne, Absence of secondary sex characteristics, Increased circul... ORPHA:785
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abdominal pain, Infectious encephalitis, Vomiting... ORPHA:2552
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Respiratory insufficiency, Abnormality of mesentery morpholo... ORPHA:93941
Primary Ciliary Dyskinesia
Asplenia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Recurrent ot... ORPHA:244
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Res... ORPHA:60032
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Postnatal growth retardation, Short stature OMIM:616113
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with e... OMIM:211600
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Igg4-Related Aortitis
Weight loss, Increased inflammatory response, Intestinal obstruction, Asthma, Abdominal pain ORPHA:449400
Congenital Pancreatic Cyst
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice ORPHA:313906
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Failure to thrive, Feeding difficulties, Recurrent inf... OMIM:613327
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Epistaxis, Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Gastroin... ORPHA:774
Cerebral Creatine Deficiency Syndrome 1
Feeding difficulties in infancy, Aganglionic megacolon, Vomiting, Failure to thrive, Ileus, Const... OMIM:300352
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Gastrointestinal Stromal Tumor
Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor, Constipation OMIM:606764
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Laryngeal Neuroendocrine Tumor
Anorexia, Weight loss, Exertional dyspnea, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone... ORPHA:100083
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Peritonitis, Abdominal distention, Metrorrhagia, Ovarian fibro... ORPHA:314478
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Microscopic Polyangiitis
Sinusitis, Nausea and vomiting, Pericarditis, Episcleritis, Gastrointestinal infarctions, Periton... ORPHA:727
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Short stature, Hypogonadotropic hypogonadism, Polycystic ovar... ORPHA:1643
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Edema, Hypoalbuminemia, Periorbital edema, Abdomi... ORPHA:656
Jejunal Atresia
Jejunal atresia OMIM:243600
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Edema, ... ORPHA:567548
Q Fever
Myocarditis, Hepatomegaly, Anorexia, Pericarditis, Infectious encephalitis, Pneumonia, Endocardit... ORPHA:781
Necrotizing Enterocolitis
Hyponatremia, Bloody diarrhea, Vomiting, Peritonitis, Ascites, Small for gestational age, Abdomin... ORPHA:391673
Scedosporiosis
Sinusitis, Sepsis, Abnormal respiratory system physiology, Fungal meningitis, Pleuritis, Septic a... ORPHA:449280
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Zollinger-Ellison Syndrome
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... ORPHA:913
Slc35A1-Cdg
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... ORPHA:238459
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft palate, Short stature, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Short stature, Abnormal lymp... ORPHA:229717
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613493
Porphyria, Acute Intermittent
Hepatocellular carcinoma, Vomiting, Nausea, Respiratory paralysis, Paralytic ileus, Diarrhea, Abd... OMIM:176000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Abdominal distention, Ileal atresia, Pyelonephritis, Recurrent infections, Elevated ... OMIM:619351
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma, Small for gestational age, Short stature, Recurrent inf... OMIM:601675
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Mulibrey Nanism
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Benign Schwannoma
Abnormal parotid gland morphology, Abnormality of the liver, Intestinal polyposis, Abnormal esoph... ORPHA:252164
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... OMIM:607361
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent ... OMIM:617091
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Portal fibrosis, Hepatic fibrosis, Ileoileal i... OMIM:619377
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Re... OMIM:617514
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Malabsorption, Splenomegaly, Premature ovarian ... ORPHA:100025
Ciliary Dyskinesia, Primary, 22
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615444
Triosephosphate Isomerase Deficiency
Respiratory insufficiency due to muscle weakness, Cholelithiasis, Splenomegaly, Cholecystitis, Ja... OMIM:615512
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Recurrent infect... ORPHA:33110
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Abdominal pain, Peritonitis OMIM:134610
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Vomiting, Peritonitis, Arthritis, Splenomegaly, Episodic abdominal pa... OMIM:249100
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Chylomicron Retention Disease
Growth delay, Vomiting, Failure to thrive, Abdominal distention, Increased hepatocellular lipid d... ORPHA:71
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Recurrent infe... OMIM:616576
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone d... ORPHA:2235
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou... OMIM:175500
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis media, Nasal regurgitation, Poo... ORPHA:99772
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Asthma, Abnormality o... ORPHA:2902
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Hypogonadism, Micropenis, Recurrent upper respiratory tract infections,... OMIM:614962
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Rhinitis, Chronic otitis m... ORPHA:47612
Eosinophilic Gastroenteritis
Atopic dermatitis, Hypoalbuminemia, Dysphagia, Allergic rhinitis, Elevated circulating C-reactive... ORPHA:2070
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... ORPHA:309108
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma, Panacinar ... OMIM:613490
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Lung adenocarcinoma, Interlobular septal thi... ORPHA:2302
Immunodeficiency 31C
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Recurr... OMIM:614162
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... OMIM:614935
Castleman Disease
Nausea and vomiting, Weight loss, Abdominal distention, Cough, Intestinal obstruction, Abdominal ... ORPHA:160
Majeed Syndrome
Inflammatory abnormality of the skin, Hepatomegaly, Cachexia, Abnormal inflammatory response, Pus... ORPHA:77297
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Recurrent viral infections, Recurrent gastroenteritis, Stomatitis OMIM:618648
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Athyreosis
Growth delay, Short stature, Macroglossia, Feeding difficulties, Abdominal distention, Hypothyroi... ORPHA:95713
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Riddle Syndrome
Short stature, Pulmonary fibrosis OMIM:611943
Caroli Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... ORPHA:53035
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Gastroparesis, Nontuberculous mycobacterial pulmon... OMIM:619223
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... ORPHA:3348
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... OMIM:240300
Whipple Disease
Myocarditis, Hepatomegaly, Cachexia, Anorexia, Pericarditis, Respiratory insufficiency, Infectiou... ORPHA:3452
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Short stature, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neut... OMIM:266265
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Hypogonadism, Premature ovarian insufficiency, Cr... ORPHA:261483
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cleft palate, Recurrent otitis media, Cholelithiasis, Cleft lip, Hepatosplenomegaly... OMIM:301066
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Bronchiectasis, Chronic rhinit... OMIM:614679
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Puerto Rican Infant Hypotonia Syndrome
High palate, Long philtrum, Abdominal distention, Prominent nasal bridge, Drooling, Narrow palate... OMIM:600096
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia, Respiratory insufficiency OMIM:618230
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Hepatosplenomegaly, Recurr... OMIM:619126
Listeriosis
Myocarditis, Septic arthritis, Respiratory failure, Diarrhea, Abdominal pain, Jaundice, Liver abs... ORPHA:533
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Severe short stature ORPHA:2278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Neutropenia, Short stature, Anemia, Recurrent infections, Gout OMIM:617056
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis, Rec... ORPHA:275
Immunodeficiency 67
Transient neutropenia, Recurrent staphylococcal infections, Recurrent streptococcal infections, L... OMIM:607676
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Androgen Insensitivity, Partial
Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorchidism, Perine... OMIM:312300
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Paralytic ileus, Gastrostomy tube feeding in infancy, Failure to thrive ORPHA:254930
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Feeding difficulties in infancy, Vomiting, Failure to thrive, Diar... OMIM:606528
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Pancytopenia, Fulminant hepatitis, Splenomegaly, Meningitis... OMIM:308240
Metachromatic Leukodystrophy
Gait disturbance, Dystonia, Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morpholo... ORPHA:512
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Short ... ORPHA:2323
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Obstructive sleep apnea, Cough, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis... OMIM:614742
Thyroid Hemiagenesis
Growth delay, Macroglossia, Abdominal distention, Constipation, Jaundice ORPHA:95719
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Feeding difficulties in infancy, Vomiting, Intestinal pseudo-obstruction, Abdom... OMIM:300048
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Pancreatic cysts, Hepatic fibrosis, Splenic cyst, Depressed ... OMIM:610199
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Failure to thrive, Feeding difficulties,... OMIM:230900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive secondary to recurrent infections, C... ORPHA:169160
Pai Syndrome