Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cystic fibrosis transmembrane conductance regulator
Synonyms:
Abcc7

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cftr mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent otitis media, Recurrent pneumonia, Growth delay OMIM:243110
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Short stature, Recurrent otitis... OMIM:616022
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... ORPHA:70592
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Immunodeficiency 53
Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, S... OMIM:617585
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent herpes, Recurrent skin infections, Recurrent Kl... OMIM:614372
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Budd-Chiari Syndrome
Peritonitis, Acute hepatic failure, Jaundice, Malabsorption, Gastrointestinal infarctions, Intest... ORPHA:131
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Chronic oral candidi... OMIM:613953
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... OMIM:266600
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, Eczema, Neutro... OMIM:300988
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Hirschsprung Disease
Failure to thrive in infancy, Intestinal obstruction, Short stature, Aganglionic megacolon, Funct... ORPHA:388
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Inflammation of the large intestine, Respiratory insufficiency, In... ORPHA:26790
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Abdominal distention, Abdominal pain, Weight loss, Pedal edema, Ascites ORPHA:168811
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Bro... OMIM:608957
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Short stature, Neutropenia ORPHA:90023
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... OMIM:614868
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Necrotizing enterocoliti... OMIM:613860
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Constipation, Intestinal malrota... OMIM:193250
Carcinoma Of Esophagus
Gastroesophageal reflux, Abnormal intestine morphology, Cough, Obesity, Dysphagia, Esophageal neo... ORPHA:70482
Cystic Fibrosis
Malabsorption, Meconium ileus, Pneumothorax, Rectal prolapse, Recurrent respiratory infections, A... ORPHA:586
Cystic Fibrosis
Chronic sinusitis, Meconium ileus, Hepatomegaly, Reduced forced vital capacity, Rectal prolapse, ... OMIM:219700
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Lactose Intolerance, Adult Type
Flatulence, Abdominal pain, Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Peutz-Jeghers Syndrome
Abnormal pigmentation of the oral mucosa, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:2869
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent viral infections,... OMIM:611521
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... OMIM:619350
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disease OMIM:615561
Whim Syndrome 2
Chronic neutropenia, Recurrent gingivitis, Severe infection OMIM:619407
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Decreased DLCO, Usual interstitial pneumonia, Reduced forced expiratory volume in one second, Pul... OMIM:616373
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fi... ORPHA:2032
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Small Bowel Atresia
Intestinal hypoplasia, Feeding difficulties, Jejunal atresia, Abdominal distention, Intrauterine ... ORPHA:1201
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Gastroesophageal reflux, Poor appetite, Hepatomegaly, Dysphagia, P... ORPHA:2198
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Abdominal distention, Cachexia, Abdominal pain, Constipation, Gastr... OMIM:613662
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic ... OMIM:618078
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Short stature, Neutropenia OMIM:610798
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol... OMIM:600803
Parana Hard-Skin Syndrome
Respiratory insufficiency, Severe postnatal growth retardation OMIM:260530
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Decreased DLCO, Cough, Honeycomb lung, Reduced forced expiratory volume in one second, Pulmonary ... OMIM:616371
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Overweight, Liver abscess, Neoplasm of the liver, Intrahep... ORPHA:69663
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
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
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating... OMIM:619665
Meconium Ileus
Meconium ileus, Microcolon, Chronic diarrhea OMIM:614665
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the ovary, Intestinal obstruction, Abdominal pain, Abnor... ORPHA:543
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 38
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618433
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Nasal polyposis, Respiratory insufficiency, Chronic rhinitis, Decr... OMIM:618695
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent lower respiratory tract infections, Recurrent bacterial infections, Absent... OMIM:613501
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Desmoid Tumor
Malabsorption, Sepsis, Intestinal obstruction, Abdominal pain, Gastrointestinal hemorrhage, Desmo... ORPHA:873
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Primary amenorrh... OMIM:612964
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
BCGosis, Severe toxoplasmosis, Lymphadenitis, Coccidioidomycosis, Recurrent Klebsiella infections... ORPHA:319552
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Malabsorption, Portal inflammation, Bile duct proliferation, ... OMIM:602347
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating antimullerian ho... OMIM:619203
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Splenomegaly, Anemia OMIM:602079
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Recurrent bacterial infections, Monocytopenia, Eczema, Neutropenia OMIM:300299
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Ileus, Neoplasm of the pancreas, Abdominal distention, Hepatomegal... ORPHA:83469
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Midgut malrotation, Nausea and vomiting, Intestinal carcinoid, Poor ... ORPHA:100079
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Immunodeficiency 31A
BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim... OMIM:614892
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Secondary Short Bowel Syndrome
Central hypothyroidism, Malabsorption, Cholestasis, Constipation, Intestinal atresia, Small intes... ORPHA:95427
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... OMIM:253240
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia, Reduced natural killer cell count, Erythema nodosu... OMIM:615214
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Intestinal Dysmotility Syndrome
High palate, Feeding difficulties, Abdominal distention, Decreased intestinal transit time, Proje... OMIM:620045
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Wolman Disease
Steatorrhea, Abdominal distention, Hepatomegaly, Cachexia, Esophageal varix, Adrenal insufficienc... ORPHA:75233
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections... OMIM:300455
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Abnormal T cell morphology, Recurrent bacterial infections, Recurrent otitis m... OMIM:613502
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... ORPHA:168563
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Protracted diarrhea, Growth delay, Malnutrition OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Villous atrophy, Arthritis, F... OMIM:613217
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Idiopathic Achalasia
Gastroesophageal reflux, Cough, Dysphagia, Malnutrition, Recurrent aspiration pneumonia, Wheezing... ORPHA:930
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Hematochezia, Intrahepatic cholestasis, Elevated circulating asparta... OMIM:613812
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis OMIM:613494
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Recurrent bacterial infections, Eosinophilia, Thro... OMIM:202700
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent otitis media, ... OMIM:620032
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... OMIM:312863
Immunodeficiency 104
Gastroesophageal reflux, Failure to thrive secondary to recurrent infections, Recurrent otitis me... OMIM:608971
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abdominal distention, Dyspepsia, Abdominal pain, Nausea, Decreased small intestina... ORPHA:103907
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent viral infections... OMIM:310350
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Esophageal carcinoma, Hep... ORPHA:139507
Primary Peritoneal Carcinoma
Peritonitis, Abdominal distention, Abdominal pain, Constipation, Nausea and vomiting ORPHA:168829
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent oti... OMIM:616726
Ppoma
Increased circulating cortisol level, Hepatomegaly, Constipation, Cholelithiasis, Hypoactive bowe... ORPHA:97278
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... OMIM:178500
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Abnormal intestine morphology, Edema, Malabsorption, Hypothyroidism, Intestinal ... OMIM:226300
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Ileus, Villous atrophy, Severe infection, Arthritis, Failure to thrive, Hepat... OMIM:304790
Peutz-Jeghers Syndrome
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Neoplasm ... OMIM:175200
Mounier-Kühn Syndrome
Recurrent respiratory infections, Bronchitis, Pneumonia, Recurrent bronchopulmonary infections ORPHA:3347
Shigellosis
Peritonitis, Myocarditis, Bloody mucoid diarrhea, Tenesmus, Cholestasis, Abdominal pain, Bloody d... ORPHA:810
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Abnormal eyebrow morphology, Synophrys, Premature graying of hair,... ORPHA:897
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Ataxia, Recurrent aphthous stomatitis, Intestinal o... ORPHA:343
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Respiratory insufficiency, Abdominal distention, Hepatomegaly, Abdominal... ORPHA:2924
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Recurrent upper respiratory tract in... OMIM:193670
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Sepsis, Severe infection, Abdominal pain, Sinusitis, Recurren... ORPHA:2686
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Biliary tract obstruction, Biliary tract neoplasm, Anorexia, Abdominal dis... ORPHA:100086
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Nausea and vomiting, Jaundice, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Abdominal distention, ... ORPHA:314473
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Meconium ileus, Feeding difficulties, Apnea OMIM:617239
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Recurrent b... OMIM:613779
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss ORPHA:52416
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Meningitis, Anemia, Sepsis, Ch... OMIM:616740
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
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Recurrent infections, Recurrent aphthous stomatitis, Abscess, Neut... OMIM:150550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Chronic bronchitis, Recurrent lower respiratory tract infections, ... OMIM:618986
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Ileal atresia, Hematochezia, Recurrent respiratory... OMIM:243150
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Steatorrhea, Abdominal distention, Decreased intestinal tra... OMIM:615237
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... ORPHA:79302
Grfoma
Increased circulating cortisol level, Hepatomegaly, Constipation, Zollinger-Ellison syndrome, Cho... ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Malabsorption, Colitis, Cachexia, Ga... ORPHA:37042
Immunodeficiency 21
Myeloid leukemia, Recurrent viral infections, Aplastic anemia, Anemia, Lymphopenia, Reduced natur... OMIM:614172
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Atrophic muscularis propria, ... ORPHA:298
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615505
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Villous atrophy, Abdominal distention, Dependency on... OMIM:619445
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... OMIM:210500
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Intestinal hypoplasia, Duodenal atresia... OMIM:601346
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Cholestasis, Malabsorption, Jeju... OMIM:615710
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis, Immotile cilia, Absent inner ... OMIM:618801
Malignant Atrophic Papulosis
Peritonitis, Nausea and vomiting, Gastrointestinal infarctions, Abdominal pain, Intestinal fistul... ORPHA:679
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Short ... ORPHA:243
Congenital Tufting Enteropathy
Anal atresia, Cholestatic liver disease, Secretory diarrhea, Malabsorption, Steatorrhea, Villous ... ORPHA:92050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:613470
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Failure to thrive, Hyperlipidemia, Abdominal colic, ... OMIM:615863
X-Linked Creatine Transporter Deficiency
Ileus, Short stature, Cachexia, Aganglionic megacolon, Constipation ORPHA:52503
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Radiation Proctitis
Rectal fistula, Hematochezia, Tenesmus, Sepsis, Intestinal obstruction, Diarrhea, Arteritis, Rect... ORPHA:70475
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Liver abscess, Acute colitis, Cough, Intestinal obstruction, Elevated hepatic transamina... ORPHA:67
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal distention, Cachexia, Gastrop... ORPHA:1876
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Somatostatinoma
Increased circulating cortisol level, Hepatomegaly, Constipation, Poor appetite, Lack of bowel so... ORPHA:97283
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
Cronkhite-Canada Syndrome
Colon cancer, Furrowed tongue, Malabsorption, Anorexia, Hepatomegaly, Cachexia, Abdominal pain, S... ORPHA:2930
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... ORPHA:1303
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Feeding difficulties, Aspiration pneumonia, Cleft palate, Gastrostomy tube feeding in in... ORPHA:141152
Satoyoshi Syndrome
Malabsorption, Short stature, Hypoplasia of the uterus, Diarrhea, Amenorrhea OMIM:600705
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Abnormal liver parenchyma morphology, ... ORPHA:3032
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent bac... ORPHA:2688
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Neutropenia, Chronic Familial
Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Autoimmune thromboc... OMIM:619220
Carney-Stratakis Syndrome
Intestinal obstruction, Abdominal pain, Dysphagia, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:97286
Secondary Intestinal Lymphangiectasia
Chylous ascites, Secondary hyperaldosteronism, Intestinal lymphedema, Anasarca, Malabsorption, Ga... ORPHA:90363
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... OMIM:615451
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Cap Polyposis
Hematochezia, Colorectal polyposis, Abdominal distention, Abdominal pain, Constipation, Atrophic ... ORPHA:160148
Congenital Hypothyroidism
Macroglossia, Goiter, Thyroid dysgenesis, Depressed nasal ridge, Hypogonadism, Intestinal obstruc... ORPHA:442
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Gastrointestinal infarctions, Abnormality of the tongue, Hepa... ORPHA:314652
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Abnormality of the liver, Skin rash, Intestinal obstruction, Neoplasm of ... ORPHA:44890
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Abdominal pain, Nausea, Male infertility, Decreased liver function, Inte... ORPHA:85450
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... OMIM:619662
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... OMIM:608184
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Neonatal respiratory distress, Jaundice, Small for gestation... ORPHA:69665
Immunodeficiency 48
Eczematoid dermatitis, Absence of CD8-positive T cells, Recurrent respiratory infections, Pneumon... OMIM:269840
Cystic Disease Of Lung
Spontaneous neonatal pneumothorax, Multiple pulmonary cysts, Recurrent infections OMIM:219600
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... ORPHA:247768
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Dehydration, Edema, Abdominal distention, Protein-losing enteropathy, Diarrhea, Abn... ORPHA:103910
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Meningitis, Recurrent bacterial infections, Recurrent otitis me... OMIM:613500
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Trichohepatoenteric Syndrome 2
Small for gestational age, Chronic hepatitis, Villous atrophy, Colitis, Hepatomegaly, Cirrhosis, ... OMIM:614602
Peritoneal Cystic Mesothelioma
Peritonitis, Abdominal distention, Abdominal pain, Constipation, Weight loss ORPHA:168816
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia OMIM:247800
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Familial Mediterranean Fever
Peritonitis, Acute hepatic failure, Oral leukoplakia, Orchitis, Skin rash, Erysipelas, Pancreatit... ORPHA:342
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Dehydration, Acute colitis, Pancreatitis, Hypokalemia, Hyponatremia, Abdominal pain,... ORPHA:90038
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Jaundice, Cholecystitis, Splenomegaly OMIM:235700
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Intestinal obstruction, Abnormal intestine m... ORPHA:2591
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Steatorrhea, Failure to thrive, Increased fecal bile acid, Chronic diarrhea OMIM:613291
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Intrauterine growth retardation... OMIM:614851
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Nasal polyposis, Bronchiolitis, Bronchiectasis, Emphysem... OMIM:604571
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:612649
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Meningitis, Intestinal obstruction, Recurrent lower respiratory tract infections, Failure to thri... OMIM:600802
Parenteral Nutrition-Associated Cholestasis
Jaundice, Small for gestational age, Hepatic fibrosis, Hepatomegaly, Villous atrophy, Cirrhosis, ... ORPHA:567983
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... ORPHA:572
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Atopic dermatitis, Severe cytomegalovirus infection, Ulcerati... OMIM:617638
Isolated Biliary Atresia
Hypopituitarism, Jaundice, Fat malabsorption, Small for gestational age, Cholestasis, Bile duct p... ORPHA:30391
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... OMIM:619436
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... OMIM:142623
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:266200
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Chronic sinusitis, Atopic dermatitis, Liver abscess, Skin rash, Celiac disease, Arth... ORPHA:183675
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hydatidiform Mole
Nausea and vomiting, Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Arthritis, Infectious encephalitis, Nausea and vomit... ORPHA:42642
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent viral infections, Aplastic anemia, Recurrent aphtho... ORPHA:486
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Delayed puberty, Abdominal distention, Hepatomegaly, Short stature, Cir... ORPHA:369
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Recurrent infections, Hemolytic anemia, Autoimmune thrombocytop... OMIM:614470
Combined Oxidative Phosphorylation Deficiency 7
Dysphagia, Paralytic ileus, Failure to thrive OMIM:613559
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Transient neutropenia, Absent circulating B cells, ... OMIM:619707
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, B ... OMIM:601457
Ciliary Dyskinesia, Primary, 39
Cough, Recurrent lower respiratory tract infections, Decreased nasal nitric oxide, Chronic lung d... OMIM:618254
Glucagonoma
Increased circulating cortisol level, Hepatomegaly, Constipation, Poor appetite, Lack of bowel so... ORPHA:97280
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Chylous Ascites
Pancreatitis, Abnormal intestine morphology, Ascites ORPHA:1160
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... OMIM:612387
Myotubular Myopathy With Abnormal Genital Development
High palate, Feeding difficulties, Micropenis, Atelectasis, Ambiguous genitalia, male, Neonatal d... OMIM:300219
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Re... OMIM:608644
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Chronic diarrhea, Exocrine ... ORPHA:309108
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Malabsorption, Hepatomeg... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrh... OMIM:211600
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Gastroesophageal reflux, Increased inflammatory response, Endocarditis, Tubulointers... ORPHA:183
Zygomycosis
Peritonitis, Myocarditis, Colitis, Abdominal pain, Gastritis, Nausea, Pneumothorax, Splenic absce... ORPHA:73263
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction OMIM:130700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Orchitis, Skin rash, Erysipelas, Uveitis, Intestinal obstruction, Myositis, Arthriti... ORPHA:32960
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Malabsorption, Villous atrophy, Colitis, Protracted diarr... OMIM:209920
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... OMIM:615504
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Cholestasis, Abdominal distention, Protein-losing enteropathy, Intrauterine growt... OMIM:608104
Primary Ciliary Dyskinesia
Chronic otitis media, Chronic sinusitis, Asplenia, Nasal polyposis, Abnormal sperm motility, Chro... ORPHA:244
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, Pulmonary sequestration, Chr... ORPHA:70589
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent viral infect... ORPHA:217390
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Interstitial Lung Disease 1
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... OMIM:619611
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Absent outer dynein arms, Absent inner dynein arms, Bronchiectasis, Immot... OMIM:613193
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Abdominal pain, Asthma, Weight loss ORPHA:449400
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormality of mesentery morphology, Cachexia, Intestinal atresia, Abn... ORPHA:93941
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Ab... OMIM:619079
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Epistaxis, Pulmonary embolism, Cirrhosis, Esophageal varix, Port... ORPHA:774
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Jejunal Atresia
Jejunal atresia OMIM:243600
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis me... OMIM:614679
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Abnormal axon... OMIM:613808
Microsporidiosis
Peritonitis, Myocarditis, Cachexia, Abdominal pain, Nausea, Abnormality of the spleen, Chronic di... ORPHA:2552
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatic fibrosis, Hepatomegaly, Protein-losing enteropathy, Cirrhosis, Villous atrop... OMIM:602579
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Prolonged ... OMIM:615512
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Immunodeficiency 13
Decreased CD4:CD8 ratio, Recurrent shingles, Bronchiolitis obliterans organizing pneumonia, Lymph... OMIM:615518
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Exertional dyspnea, Weig... ORPHA:100083
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Congenital Pancreatic Cyst
Jaundice, Pancreatitis, Anorexia, Abdominal distention, Abdominal pain, Vomiting ORPHA:313906
Lipoid Proteinosis
High palate, Nasal polyposis, Acne, Dysphagia, Abnormal oral mucosa morphology, Microglossia, Abn... ORPHA:530
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent otitis media, Conjunc... OMIM:613493
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:616481
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Short stature, Decreased fertility, Ectopic anus, Secondary amenorrhea, Hypog... ORPHA:1643
Microscopic Polyangiitis
Peritonitis, Skin rash, Pancreatitis, Uveitis, Gastrointestinal infarctions, Arthritis, Episcleri... ORPHA:727
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Feeding difficulties, Pyloric stenosis, Hepatomegaly, Failure to thrive, Constipation, Dys... OMIM:613327
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Dysphagia, Upper airw... ORPHA:60032
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... OMIM:273250
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections, Osteomyelit... OMIM:615978
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abdominal distention, Metrorrhagia, Abdominal pain, Ovaria... ORPHA:314478
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Respiratory insufficiency ... OMIM:614935
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Nasal polyposis, Producti... OMIM:617092
Cortisone Reductase Deficiency 1
Acne, Oligomenorrhea, Precocious puberty, Infertility OMIM:604931
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation OMIM:606764
Leptin Deficiency Or Dysfunction
Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Recurrent ear infections... OMIM:614962
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Edema, Periorbital edema, Abdominal pain, Minimal change glomerulonephritis, Hypoalb... ORPHA:656
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, BCGitis, Eosinophilia, Sinusi... OMIM:226990
Q Fever
Myocarditis, Hepatosplenomegaly, Maculopapular exanthema, Endocarditis, Abnormality of the liver,... ORPHA:781
Zollinger-Ellison Syndrome
Hyperparathyroidism, Increased circulating cortisol level, Nausea, Duodenal ulcer, Pituitary cort... ORPHA:913
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Edema, Periorbital edema, Abdominal pain, ... ORPHA:567548
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Edema, Abdominal distention, Hyponatremia, Bloody diarrhe... ORPHA:391673
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
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
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Cleft palate, Malformation of the hepati... OMIM:607361
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Pana... OMIM:613490
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenom... OMIM:615285
Mulibrey Nanism
Short stature, Hepatomegaly, Intrauterine growth retardation, Cachexia ORPHA:2576
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... ORPHA:2302
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615500
Bronchogenic Cyst
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Abdominal pain, Dysphagia, Bronchogenic ... ORPHA:2357
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... OMIM:614842
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Immunodeficiency 52
Persistent CMV viremia, Recurrent infections, Autoimmune thrombocytopenia, Increased proportion o... OMIM:617514
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent respiratory infections, Nasal polyposis, Chronic bronchi... OMIM:608647
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Slender build, Abdominal cramps, Hyperactive bowel sounds, Malabsorption, ... OMIM:603041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Ileal atresia, Pyelonephritis, Abdominal distention, Elevated pulmonary artery press... OMIM:619351
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... OMIM:300991
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Increased intestinal transit time, Cholestasis, Hepatic fibrosis, Vill... OMIM:619377
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Malabsorption, Anorexia, Xerostomia, Protein-losing enteropathy, Cachexi... OMIM:175500
Slc35A1-Cdg
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... ORPHA:238459
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Thrombocytopenia, Growth delay, Neutropenia OMIM:614082
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Acne, Abnormal... ORPHA:785
Scedosporiosis
Pleuritis, Severe infection, Fungal meningitis, Respiratory failure, Endocarditis, Sinusitis, Bro... ORPHA:449280
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Meningitis, Skin rash, A... ORPHA:229717
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Decreased nasal nitric oxide, Absent central mic... OMIM:617091
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Abdominal pain OMIM:134610
Castleman Disease
Abnormality of the gastrointestinal tract, Jaundice, Abdominal mass, Dyspnea, Cough, Abdominal di... ORPHA:160
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Premature ovarian insufficiency, Asplenia, Chronic active hepatitis, Malabs... OMIM:240300
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Porphyria, Acute Intermittent
Hepatocellular carcinoma, Abdominal pain, Constipation, Diarrhea, Nausea, Respiratory paralysis, ... OMIM:176000
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Recurrent infections, Meningitis, Skin ra... ORPHA:33110
Majeed Syndrome
Inflammatory abnormality of the skin, Pustule, Malabsorption, Cough, Hepatomegaly, Cachexia, Fail... ORPHA:77297
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Meningitis, Sepsis, Severe infection, Pneum... ORPHA:464370
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Hypoplasia of the uterus, Cleft palate, Azoospermia, Bicornuate uterus OMIM:601076
Familial Mediterranean Fever
Peritonitis, Chronic constipation, Orchitis, Erysipelas, Hepatomegaly, Arthritis, Aphthous ulcer,... OMIM:249100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Atopic dermatitis, Hematochezia, Edema, Malabsorption,... ORPHA:2070
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutr... ORPHA:231401
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Recurrent viral infections, Bronchiectasis, Stomatitis OMIM:618648
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Hypogonadism, Malabsorption, Keratoconjunctivitis sicca, Intestinal ob... OMIM:601675
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Abnormal small intestine morphology, Hypocalcemia, S... ORPHA:100025
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Short stature, D... ORPHA:2235
Felty Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic otitis media, Pleur... ORPHA:47612
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Severe infection, Abdominal pain, Severe varicella zoster infection, Na... ORPHA:36234
Alexander Disease Type I
Dysphagia, Vomiting, Cachexia, Failure to thrive ORPHA:363717
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon, Failure to thrive, Constipation, Feeding difficulties in infancy, V... OMIM:300352
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Whipple Disease
Myocarditis, Malabsorption, Respiratory insufficiency, Anorexia, Cough, Hepatomegaly, Cachexia, A... ORPHA:3452
Athyreosis
Macroglossia, Feeding difficulties, Hypothyroidism, Abdominal distention, Short stature, Constipa... ORPHA:95713
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Neoplasm of the liver, Abnormal liver sonography, Elevated circulating... ORPHA:90003
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Sepsis, Autoimmune hemolytic anemia, B lymp... ORPHA:231154
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic sinusitis, Nasal polyposis, Respiratory insufficiency, ... OMIM:616037
Riddle Syndrome
Short stature, Pulmonary fibrosis OMIM:611943
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Oligodontia, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Enam... OMIM:607626
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Dyspnea, Tachypnea, Crescentic glomerulon... OMIM:616414
Immunodeficiency 77
Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess, Nontuber... OMIM:619223
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Open mouth, Chronic constipation, Cleft lip, Hepatomegaly, Cleft palate, Ever... OMIM:301066
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Splenomegaly, Failure to thrive, Enterocolitis, Feeding difficulties ... OMIM:616050
Immunodeficiency 84
Persistent EBV viremia, Perianal abscess, Recurrent bacterial infections OMIM:619437
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Asplenia, Enlarged kidney, Cholestasis, Bile duct proliferation, Hepatic fibro... OMIM:208540
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Neutropenia, Recurrent bacter... OMIM:601495
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Azoospermia, Absent vas deferens,... OMIM:312300
Listeriosis
Peritonitis, Myocarditis, Hepatic granulomatosis, Abdominal pain, Nausea, Respiratory failure, Sp... ORPHA:533
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Short stature, Recurrent otitis media, Bronchiolitis, Periodont... OMIM:266265
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Recurrent respiratory infections, Decreased proportion of class-switched memo... OMIM:619126
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea, Abdominal distention, Elevated hepatic transaminase, Increased he... ORPHA:71
Gordon Holmes Syndrome
Oligomenorrhea, Primary amenorrhea, Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence ... OMIM:212840
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Caroli Disease
Leukocytosis, Cholestasis, Hepatomegaly, Abdominal pain, Nausea, Cholelithiasis, Liver abscess, E... ORPHA:53035
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Dyspnea, Atelectasis, Restrictive ventilatory defect, ... ORPHA:2902
Refractory Anemia
Dyspnea, Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia,... ORPHA:98826
Combined Oxidative Phosphorylation Defect Type 7
Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia, Paralytic ileus, Failure to thrive ORPHA:254930
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Gcgr-Related Hyperglucagonemia
Stomatitis, Neoplasm of the pancreas, Abdominal pain, Abnormal biliary tract morphology, Cholelit... ORPHA:438274
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Dyspnea, Gastroesophageal reflux, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usu... OMIM:614742
Immunodeficiency 7
Recurrent respiratory infections, Hypereosinophilia, Autoimmune hemolytic anemia, Chronic oral ca... OMIM:615387
Immunodeficiency 98 With Autoinflammation, X-Linked
Agranulocytosis, Recurrent infections, Hemophagocytosis, Recurrent aphthous stomatitis, Autoimmun... OMIM:301078
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Cough, Abnormal ciliary motility, Chronic... OMIM:611884
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Atopic dermatitis, Neutropenia, Lymphopenia, Reduced natural killer cell count, Recurrent skin in... OMIM:619752
Meckel Syndrome, Type 2
Bile duct proliferation, Intestinal malrotation, Cleft palate OMIM:603194
46,Xy Sex Reversal 4
Anal atresia, High palate, Agonadism, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, H... OMIM:154230
Pai Syndrome
Midline defect of the nose, Bifid uvula, Nasal polyposis, Cleft palate, Abnormal oral frenulum mo... ORPHA:1993
Thyroid Hemiagenesis
Macroglossia, Jaundice, Abdominal distention, Constipation, Growth delay ORPHA:95719
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Hashimoto thyroiditis, Recurrent aphthous stomatitis, Skin rash, Juve... ORPHA:275
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High palate, Ileus, High, narrow palate OMIM:620156
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)