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Gene: Cftr MGI:88388

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cystic fibrosis transmembrane conductance regulator

Synonyms:

Abcc7

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cftr mutations

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

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

Human diseases associated with Cftr (10 diseases)
Human diseases predicted to be associated with Cftr (2035 diseases)

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

Disease	Matching phenotypes	Source
Cystic Fibrosis	Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Meconium ileus, Recurrent ...	ORPHA:586
Cystic Fibrosis	Recurrent pneumonia, Diarrhea, Bronchiectasis, Failure to thrive, Biliary cirrhosis, Exocrine pan...	OMIM:219700
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent lower respiratory tract infections, Acute infec...	ORPHA:60033
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia	ORPHA:48
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens	OMIM:277180
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal...	OMIM:167800
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Abdominal pain	ORPHA:676
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar hyperhidrosis, Edema	ORPHA:498359

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Immunodeficiency With Defective T-Cell Response To Interleukin 1	Recurrent otitis media, Recurrent pneumonia	OMIM:243110
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Short stature, Recurrent res...	OMIM:616022
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in...	OMIM:614372
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect...	OMIM:617585
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz...	OMIM:613953
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int...	ORPHA:388
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti...	OMIM:613860
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro...	OMIM:608957
Malignant Peritoneal Mesothelioma	Ascites, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Pedal edema	ORPHA:168811
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Short stature, Neutropenia	ORPHA:90023
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Weight...	ORPHA:26790
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu...	OMIM:611521
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Peutz-Jeghers Syndrome	Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ...	ORPHA:2869
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Small Bowel Atresia	Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr...	ORPHA:1201
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Endometriosis, Susceptibility To, 1	Decreased fertility, Endometriosis, Dysmenorrhea	OMIM:131200
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Cystic Fibrosis	Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Meconium ileus, Recurrent ...	ORPHA:586
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Short stature, Neutropenia	OMIM:610798
Cystic Fibrosis	Recurrent pneumonia, Diarrhea, Bronchiectasis, Failure to thrive, Biliary cirrhosis, Exocrine pan...	OMIM:219700
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo...	OMIM:613662
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Partial Chromosome Y Deletion	Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613495
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T...	OMIM:613501
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Abnormal T cell morphology, Neutropenia,...	OMIM:615214
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:618695
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Cachexia, Weight loss, Testicular neoplasm, Abdominal distention, Hep...	ORPHA:83469
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono...	OMIM:300299
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Adrenal insufficiency, Nausea and vomiting, Splenomegaly,...	ORPHA:75233
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Feeding difficulties, Weight loss...	OMIM:620045
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Secondary Short Bowel Syndrome	Diarrhea, Cholestasis, Polyphagia, Weight loss, Abdominal distention, Villous atrophy, Malabsorpt...	ORPHA:95427
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re...	ORPHA:319552
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay	OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for...	OMIM:613217
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Neuroendocrine Neoplasm Of Appendix	Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Hepatomegaly, Nausea and...	ORPHA:100079
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Autoinflammatory Disease, Familial, Behcet-Like 3	Recurrent infections, Ileitis	OMIM:618287
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen...	OMIM:300455
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Desmoid Tumor	Gastrointestinal hemorrhage, Sepsis, Malabsorption, Intestinal polyposis, Intestinal obstruction,...	ORPHA:873
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep...	OMIM:613812
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutropenia, Abnormal T cell morp...	OMIM:613502
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Anorexia	ORPHA:52416
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti...	OMIM:202700
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch...	OMIM:614868
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Ppoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97278
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d...	ORPHA:103907
Diarrhea 9	Villous atrophy, Diarrhea, Failure to thrive	OMIM:618168
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c...	ORPHA:139507
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Peutz-Jeghers Syndrome	Intestinal bleeding, Nasal polyposis, Gastrointestinal carcinoma, Bile duct polyp, Labial melanot...	OMIM:175200
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Generalized edema, Vomiting, Diarrhea, Intestinal lymphangiectasia, Ascites, Mal...	OMIM:226300
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A...	ORPHA:897
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Shigellosis	Cholestasis, Anorexia, Abnormal blood ion concentration, Abdominal pain, Intestinal perforation, ...	ORPHA:810
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative...	OMIM:613779
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Eczematoid dermatitis, Hepatitis, Villous atrophy, Ileus, Severe infection, Er...	OMIM:304790
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Combined Immunodeficiency, X-Linked	Pneumonia, Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased proportion of CD8-pos...	OMIM:312863
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Immunodeficiency 46	Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Meningiti...	OMIM:616740
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis, Cili...	OMIM:615294
Idiopathic Achalasia	Gastroesophageal reflux, Malnutrition, Weight loss, Recurrent aspiration pneumonia, Dysphagia	ORPHA:930
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit...	ORPHA:90003
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S...	OMIM:620367
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr...	OMIM:615237
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Anorexia, Ascites, Cholecystitis, Intermittent jaundice, Biliary tract ob...	ORPHA:100086
Mounier-Kühn Syndrome	Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis	ORPHA:3347
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo...	OMIM:243150
Grfoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97261
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Immunodeficiency 61	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Ovarian Fibroma	Abdominal distention, Ascites, Abnormality of the ovary, Pleural effusion, Ovarian fibroma, Perit...	ORPHA:314473
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentrat...	ORPHA:298
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu...	OMIM:193670
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Increased circul...	ORPHA:243
Radiation Proctitis	Hematochezia, Sepsis, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstr...	ORPHA:70475
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Mitchell-Riley Syndrome	Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C...	OMIM:615710
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung	OMIM:616371
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Asherman Syndrome	Abnormality of the menstrual cycle, Chronic infection, Metrorrhagia, Dysmenorrhea, Episodic abdom...	ORPHA:137686
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice	OMIM:613470
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Abdominal col...	OMIM:615863
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
X-Linked Creatine Transporter Deficiency	Ileus, Aganglionic megacolon, Cachexia, Constipation, Short stature	ORPHA:52503
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97283
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru...	ORPHA:37042
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest...	ORPHA:92050
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey...	ORPHA:2032
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Aids Wasting Syndrome	Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia	ORPHA:90081
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm...	ORPHA:3032
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Polycystic Lung Disease	Recurrent infections, Multiple pulmonary cysts, Spontaneous neonatal pneumothorax	OMIM:219600
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Pleural effusion, Intestinal obstr...	ORPHA:67
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple...	ORPHA:2930
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting...	ORPHA:44890
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo...	ORPHA:160148
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren...	OMIM:613500
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Hereditary Amyloidosis With Primary Renal Involvement	Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Weight loss, Oligozoospermia, Hepatomegaly,...	ORPHA:85450
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia	ORPHA:397685
Satoyoshi Syndrome	Diarrhea, Malabsorption, Amenorrhea, Short stature, Hypoplasia of the uterus	OMIM:600705
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul...	OMIM:615363
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Neutropenia, Chronic Familial	Periodontitis, Neutropenia	OMIM:162700
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiectasis, Chronic rhi...	OMIM:618801
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointestinal eosinoph...	ORPHA:90363
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Vomiting, Diarrhea, Bloody diarrhea, Elevated circulating creatinine concentration, Rectal prolap...	ORPHA:90038
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary...	ORPHA:247768
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss, Constipation, Abdominal distention, Abdominal pain	ORPHA:168816
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti...	OMIM:604571
Congenital Pancreatic Cyst	Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice	ORPHA:313906
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis	OMIM:235700
Trichohepatoenteric Syndrome 2	Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Cirrhosis, Chronic hepat...	OMIM:614602
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Seckel Syndrome 7	Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea...	OMIM:614851
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Edema, Weight loss, Abnormal...	ORPHA:103910
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Variant Abeta2M Amyloidosis	Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Hepatic...	ORPHA:314652
Infantile Myofibromatosis	Abnormal intestine morphology, Tracheoesophageal fistula, Neoplasm of the pancreas, Intestinal ob...	ORPHA:2591
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti...	OMIM:142623
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation...	ORPHA:30391
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Nausea ...	ORPHA:679
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97280
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice	OMIM:266200
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukem...	OMIM:614470
Hydatidiform Mole	Menometrorrhagia, Nausea and vomiting, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia, Failure to thrive	OMIM:613559
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt...	ORPHA:369
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liver function, Chol...	OMIM:608104
Chylous Ascites	Abnormal intestine morphology, Pancreatitis, Ascites	ORPHA:1160
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Failure to thrive, Abdominal pain, ...	ORPHA:35122
Primary Ciliary Dyskinesia	Nasal polyposis, Abnormal sperm motility, Female infertility, Polysplenia, Nasal congestion, Recu...	ORPHA:244
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast...	OMIM:605258
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Intestinal obstructi...	ORPHA:32960
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Recurrent sinusitis, Absent circulating B cells, Meningitis, Recurrent res...	OMIM:619707
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis	OMIM:607080
Jejunal Atresia	Jejunal atresia	OMIM:243600
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery...	ORPHA:342
Mhc Class Ii Deficiency 1	Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malab...	OMIM:209920
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aph...	ORPHA:486
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Wolman Disease	Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:620151
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Weight loss, Nasogastric...	ORPHA:141152
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Lipoid Proteinosis	Acne, Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, ...	ORPHA:530
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit...	OMIM:607594
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic bronchitis, Recurr...	OMIM:615505
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thr...	OMIM:602579
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis	OMIM:247800
Benign Schwannoma	Nasal polyposis, Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, A...	ORPHA:252164
Microscopic Polyangiitis	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Uveitis, Gastrointestinal infarctions, Episcler...	ORPHA:727
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction	OMIM:606764
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:66628
Xp22.3 Microdeletion Syndrome	Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Ectopic anus, Short statu...	ORPHA:1643
Riddle Syndrome	Short stature, Pulmonary fibrosis	OMIM:611943
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, A...	OMIM:269840
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Bifid scrotum, Glandular hypospadias, Bilateral cryptorchidism, Penile hypospadias, ...	OMIM:300219
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Zygomycosis	Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga...	ORPHA:73263
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Cachexia, Weight loss, Prostatiti...	ORPHA:2552
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Ovarian Fibrothecoma	Ascites, Abnormality of the ovary, Metrorrhagia, Ovarian fibroma, Peritonitis, Abdominal distenti...	ORPHA:314478
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Igg4-Related Aortitis	Increased inflammatory response, Abdominal pain, Weight loss, Intestinal obstruction	ORPHA:449400
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Recurrent viral infections, Eczematoid dermatiti...	OMIM:620565
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Skin rash, Intestin...	ORPHA:183
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent otitis medi...	OMIM:600802
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis, Ciliary dyskinesia	OMIM:615872
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Peritonitis, Periorbital edema, Abdominal pai...	ORPHA:656
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti...	OMIM:603041
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea, Acne	OMIM:604931
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Failure to thrive, Ileus, Hepatic steatosis, Splenomegaly, Constipation, Hep...	OMIM:613327
Interstitial Lung Disease 2	Usual interstitial pneumonia, Pulmonary fibrosis, Elevated bronchoalveolar lavage fluid neutrophi...	OMIM:178500
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:179494
Immunodeficiency 27B	Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl...	OMIM:615978
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation...	OMIM:607361
Necrotizing Enterocolitis	Vomiting, Diarrhea, Bloody diarrhea, Ascites, Hypoactive bowel sounds, Hyponatremia, Peritonitis,...	ORPHA:391673
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni...	OMIM:601457
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per...	ORPHA:567548
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage	OMIM:178550
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
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
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Chronic bronchitis, Bronchiectasis, Recurrent bronchiolitis	OMIM:613021
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Disseminated molluscum contagiosum, Colonic eos...	OMIM:617638
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Re...	OMIM:615285
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic...	OMIM:614679
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic rhinitis, Recurrent sinu...	OMIM:615451
Immunodeficiency 65, Susceptibility To Viral Infections	Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In...	ORPHA:93941
Zollinger-Ellison Syndrome	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ...	ORPHA:913
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Leptin Deficiency Or Dysfunction	Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypogonadism, Decreased testic...	OMIM:614962
Familial Mediterranean Fever, Autosomal Dominant	Abdominal pain, Peritonitis, Erysipelas	OMIM:134610
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron...	OMIM:613193
Immunodeficiency 32B	Pneumonia, Recurrent infections, BCGitis, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosi...	OMIM:226990
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Short stature, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate	OMIM:601076
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay	OMIM:614082
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Alexander Disease Type I	Cachexia, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hypocalcemia, Hepatome...	ORPHA:100025
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Aphthous ulcer, Leukocytosis, Splenomegaly, Chronic constipation,...	OMIM:249100
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Weight loss, Oral-pharyngeal dysphagia, Anorexia	ORPHA:100083
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Immunodeficiency 84	Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia	OMIM:619437
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cerebral Creatine Deficiency Syndrome 1	Vomiting, Failure to thrive, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Const...	OMIM:300352
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin...	ORPHA:229717
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Pulmonary fibrosis	OMIM:620400
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Allergic rhinitis,...	ORPHA:2070
Chylomicron Retention Disease	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Growth delay, Failur...	ORPHA:71
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Villous at...	OMIM:619377
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida...	ORPHA:217390
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Conjunctivitis, Recu...	OMIM:613493
Bacterial Toxic-Shock Syndrome	Diarrhea, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Elevated circulating cre...	ORPHA:36234
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent lower respiratory tract infections, Acute infec...	ORPHA:60033
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp...	OMIM:612387
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis...	OMIM:615504
Caroli Disease	Cholestasis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Anorexia, He...	ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Autoinflammation With Infantile Enterocolitis	Secretory diarrhea, Failure to thrive, Villous atrophy, Splenomegaly, Skin rash, Feeding difficul...	OMIM:616050
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chroni...	OMIM:617092
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Cleft lip, Recurrent otitis media, Hepatosplenomegaly, Obesity, Open mouth, Chole...	OMIM:301066
Athyreosis	Hypothyroidism, Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay, Fe...	ORPHA:95713
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph...	OMIM:312300
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Anorexia, Osteomye...	ORPHA:781
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia...	OMIM:615387
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel...	OMIM:607676
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnormality of the gastrointestinal ...	ORPHA:160
Gordon Holmes Syndrome	Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe...	OMIM:212840
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Chronic sinusitis, Recurrent b...	OMIM:612692
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Christianson Syndrome	Gastroesophageal reflux, Inappropriate laughter, Feeding difficulties in infancy, Cachexia, Dysph...	ORPHA:85278
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:79301
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening...	ORPHA:464370
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Immunodeficiency 102	Recurrent upper respiratory tract infections, Reduced natural killer cell count, Increased propor...	OMIM:301082
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic bronchitis, Re...	OMIM:612649
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma	OMIM:176000
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Failure to thrive, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy	ORPHA:254930
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sin...	ORPHA:33110
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Felty Syndrome	Recurrent infections, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent ur...	ORPHA:47612
Triosephosphate Isomerase Deficiency	Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun...	OMIM:615512
Pai Syndrome	Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up...	ORPHA:1993
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections	OMIM:608106
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, High palate, Ileus	OMIM:620156
Meckel Syndrome, Type 2	Intestinal malrotation, Bile duct proliferation, Cleft palate	OMIM:603194
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention, Recurrent infections	OMIM:619351
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia...	OMIM:240300
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf...	OMIM:606528
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Recurrent otitis media, Re...	OMIM:601495
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology	OMIM:215520
Chylomicron Retention Disease	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Hypotriglyceridemia, Malnutrition, Hypoch...	OMIM:246700
Complete Androgen Insensitivity Syndrome	Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni...	ORPHA:99429
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,...	OMIM:613808
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Recurrent respiratory infections	OMIM:619063
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicca, Erythroderma, Sh...	OMIM:601675
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
46,Xy Sex Reversal 4	Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Anal atresia, High palate, ...	OMIM:154230
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Eos...	OMIM:243700
Immunodeficiency 98 With Autoinflammation, X-Linked	Pneumocystis jirovecii pneumonia, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recu...	OMIM:301078
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen...	OMIM:614935
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Villous atrophy, Duodenitis, Pustule, Erythroderma, Bloody diarrhea	OMIM:614328
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Intrauterine growth retardation, Recurrent respiratory infections, Neutropenia	ORPHA:2643
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Recurrent otitis media, Decreased CD4:CD8 rat...	OMIM:300853
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Metachromatic Leukodystrophy	Tip-toe gait, Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Gait disturbance,...	ORPHA:512
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec...	ORPHA:169154
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Sepsis, Bron...	ORPHA:449280
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Sk...	ORPHA:275
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Tracheal stenosis, Si...	ORPHA:64744
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Gout, Neutropenia, Anemia, Recurrent infections, Short stature	OMIM:617056
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor...	OMIM:617091
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni...	ORPHA:397596
Colonic Atresia	Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ...	ORPHA:1198
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay	OMIM:612563
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Sanjad-Sakati Syndrome	Hyperphosphatemia, Recurrent respiratory infections, Postnatal growth retardation, Cryptorchidism...	ORPHA:2323
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent respiratory ...	OMIM:619126
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Perlman Syndrome	Wide nasal bridge, High, narrow palate, Abnormal pancreas morphology, Anteverted nares, Abnormal ...	ORPHA:2849
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft upper lip, Bifid uvula, Nasal polyposis, High palate	OMIM:155145
Mpi-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fai...	ORPHA:79319
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:611884
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Chronic Beryllium Disease	Pulmonary fibrosis, Hypersensitivity pneumonitis, Reticulonodular pattern on pulmonary HRCT, Lymp...	ORPHA:133
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Listeriosis	Diarrhea, Arteritis, Pustule, Abdominal pain, Jaundice, Endocarditis, Osteomyelitis, Peritonitis,...	ORPHA:533
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility	ORPHA:3000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Choanal atresia, Depressed nasal bridge, Hepatitis, Pancreatic hypoplasia, Long...	OMIM:610199
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr...	ORPHA:449395
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic...	OMIM:243180
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Conjunctivitis	OMIM:603552
Porphyria Variegata	Abnormality of the liver, Ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma	ORPHA:79473
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho...	OMIM:620548
Ciliary Dyskinesia, Primary, 32	Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro...	OMIM:616481
Sialuria	Wide nasal bridge, High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase...	ORPHA:3166
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Gcgr-Related Hyperglucagonemia	Abdominal pain, Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Glycogen Storage Disease Xii	Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen...	OMIM:611881
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitional B cells, D...	OMIM:615513
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis, Bowel incontinence, Abdominal distention	ORPHA:309271
Renpenning Syndrome	High, narrow palate, Severe short stature, Decreased testicular size, Cachexia, Anal atresia, Gro...	ORPHA:3242
46,Xy Sex Reversal 1	Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona...	OMIM:400044
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Neutropenia	OMIM:606843
Immunodeficiency 62	Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Severe recu...	OMIM:618459
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb...	ORPHA:238459
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Thyroiditis, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral ...	ORPHA:83471
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat...	OMIM:619752
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinu...	OMIM:240500
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Anemi...	ORPHA:47
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist...	ORPHA:521219
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Meckel Syndrome, Type 5	Cleft upper lip, Bile duct proliferation, Cleft palate	OMIM:611561
Adiposis Dolorosa	Obesity, Constipation, Abdominal distention	OMIM:103200
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Acne, Secondary amenorrhea, Premature pubarche	OMIM:612847
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Esophagitis, ...	ORPHA:443811
Waardenburg Syndrome	Aganglionic megacolon, Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia...	ORPHA:3440
Immunodeficiency 77	Recurrent tonsillitis, Cutaneous abscess, Gastroparesis, Nontuberculous mycobacterial pulmonary i...	OMIM:619223
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Qazi-Markouizos Syndrome	High, narrow palate, Prominent nasal bridge, Open mouth, Cryptorchidism, Chronic constipation, Br...	ORPHA:3010
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:146110
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr...	OMIM:617475
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent infections, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to r...	ORPHA:169160
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Rectal prolapse, Chronic constipation, Dec...	ORPHA:209964
Galactose Epimerase Deficiency	Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay, Feeding dif...	ORPHA:79238
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Hypothyroidism, Abdominal distention, Growth delay, Small for gestationa...	OMIM:256300
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Intestinal atresia	OMIM:614326
Celiac Disease, Susceptibility To, 1	Vomiting, Diarrhea, Eczematoid dermatitis, Elevated circulating hepatic transaminase concentratio...	OMIM:212750
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer	ORPHA:3217
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Goiter, Decreased circulating T4 concentration, Congenital hypothyroidism...	ORPHA:226313
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma	OMIM:613490
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurrent infe...	OMIM:229050
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Pulmonary fibrosis, Delayed puberty, Erysipelas, Growth delay	OMIM:615704
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Intrauterine growth retardation, Cachexia	ORPHA:1438
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch...	OMIM:608647
Tetrasomy 12P	Cachexia, Hypohidrosis, Short stature, Abnormal soft palate morphology, Anal atresia	ORPHA:884
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Dysphagia	OMIM:618230
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Immotile cilia, Recurrent s...	OMIM:615482
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Intrauterine growth retardation,...	OMIM:617827
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He...	OMIM:278000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Postnatal growth retardation, Delayed puberty, Short stature, Celiac disea...	OMIM:618985
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Abdominal pain	ORPHA:163746
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Riboflavin Transporter Deficiency	Aggressive behavior, Cachexia, Dysphagia	ORPHA:97229
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT	ORPHA:60026
Refractory Celiac Disease	Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Inflammatory...	ORPHA:398063
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Acne, Menorrhagia	ORPHA:2795
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Reduced sperm motility, Recurrent otitis media, Recurrent sinusitis, Absent inne...	OMIM:615444
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis s...	OMIM:307200
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respira...	OMIM:616037
Ciliary Dyskinesia, Primary, 1	Pneumonia, Anosmia, Nasal polyposis, Male infertility, Chronic sinusitis, Chronic rhinitis, Asple...	OMIM:244400
Melioidosis	Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen...	ORPHA:31202
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, High palate, Increased circulating gonado...	OMIM:110100
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibrosis,...	OMIM:618394
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein a...	OMIM:610852
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Feeding difficulties in infancy, Testicular atrophy, Dysphagia	OMIM:160900
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coi...	OMIM:620197
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati...	ORPHA:436252
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic ...	OMIM:235255
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Poliomyelitis	Myelitis, Vomiting, Infectious encephalitis, Paralytic ileus, Nausea, Anorexia, Meningitis, Dysph...	ORPHA:2912
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Elevated circulati...	ORPHA:79095
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the liver, Abnormality of ...	ORPHA:85443
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr...	OMIM:616576
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Abdominal distention, Increased mean corpuscular he...	ORPHA:822
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Uveitis, Polydipsia, Anorexia, Malabsorption, Splenomegaly...	ORPHA:3452
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat...	ORPHA:2410
Meckel Syndrome, Type 6	Hepatic fibrosis, Cleft upper lip, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cl...	OMIM:612284
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Otitis media, Sinusitis, Absent inner and outer dynein arms, Infertility, Bronch...	OMIM:606763
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Long philtrum, Ascites, Villous atrophy, Splenomegaly, Hepatomegaly, Wide mouth	OMIM:608776
Vascular Hyalinosis	Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption	OMIM:277175
Immunodeficiency 112	Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter...	OMIM:620449
Microlissencephaly	Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss...	ORPHA:1083
Kawasaki Disease	Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Lip fissure, Nausea and vomiting, Cholecy...	ORPHA:2331
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm...	ORPHA:1163
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, Steatorrhea	OMIM:615935
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce...	OMIM:158330
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Fusariosis	Pneumonia, Unusual CNS infection, Invasive fungal infection, Brain abscess, Keratitis, Fasciitis,...	ORPHA:228119
Alg1-Cdg	Protein-losing enteropathy, Sepsis, Decreased liver function, Abnormality of the gastrointestinal...	ORPHA:79327
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Immotile cilia, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis, Ci...	OMIM:615481
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cirrhosis	ORPHA:79278
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Skin rash, Recurrent bacterial meningitis, Hypoplasia of the thym...	OMIM:300400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum,...	OMIM:618982
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Prostatitis, Weight loss, Inflammatory abnormality o...	ORPHA:900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 85 And Autoimmunity	Eczematoid dermatitis, Villous atrophy, Oligoarthritis, Erythroderma, Recurrent respiratory infec...	OMIM:619510
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ...	OMIM:610984
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Disproportionate short-limb short stature, Elevat...	OMIM:609441
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Recurrent respiratory infections, ...	ORPHA:1839
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t...	ORPHA:436159
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni...	OMIM:612650
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Abdominal distention, Elevated circulating hepatic transaminase concentration, Anorexia...	ORPHA:100085
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurrent respiratory infections, Recurren...	OMIM:615207
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Growth delay, Aplasia/hypoplasia of the uterus,...	ORPHA:2232
Spinal Cord Injury	Paralytic ileus	ORPHA:90058
Silver-Russell Syndrome	Gastroesophageal reflux, Failure to thrive in infancy, Decreased testicular size, Postnatal growt...	ORPHA:813
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Recurrent infection of the gastrointestinal tract, Decreased body weight, Abdominal pai...	ORPHA:51890
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration	OMIM:300752
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch...	ORPHA:811
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ...	OMIM:232700
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps...	ORPHA:51636
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Cholecystitis, Abdominal distention	ORPHA:309256
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Vomiting, Recurrent tonsillitis, Osteomyelitis, Glucocortocoid...	ORPHA:171876
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia	ORPHA:48
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay	ORPHA:289916
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,...	ORPHA:79276
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function	OMIM:614156
Ovarian Dysgenesis 1	Primary amenorrhea, Increased circulating gonadotropin level, Gonadal dysgenesis	OMIM:233300
Rett Syndrome	Cholecystitis, Failure to thrive	ORPHA:778
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms	OMIM:614017
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Abdominal distention, Jaundice, Fu...	OMIM:215600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Pulmonary fibrosis, Gastroesop...	OMIM:614742
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s...	ORPHA:753
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate	OMIM:601110
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Dysphagia, Gastroesophageal reflux	ORPHA:220402
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent...	OMIM:619281
Caspase 8 Deficiency	Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ...	OMIM:607271
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Broad nasal tip, Abdominal distention, Pancreatic ly...	ORPHA:1655
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormality of the gastrointestinal tra...	ORPHA:2902
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Nocardiosis	Lymphadenitis, Scleritis, Weight loss, Anorexia, Meningitis, Endocarditis, Unusual CNS infection,...	ORPHA:31204
Gaisböck Syndrome	Peptic ulcer, Obesity, Gout, Cholecystitis, Overweight	ORPHA:90041
Meier-Gorlin Syndrome 7	Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Cryptorchidism, Decreas...	OMIM:617063
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,...	ORPHA:275761
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiol...	OMIM:300755
Protoporphyria, Erythropoietic, 1	Hepatic failure, Cholelithiasis, Hemolytic anemia, Eczematoid dermatitis	OMIM:177000
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Pleural effusion, Crohn'...	OMIM:618935
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Chronic rhinitis, Immotile sperm, Sinusitis, Absent respiratory ciliary axoneme ...	OMIM:242670
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibod...	ORPHA:77259
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Protuberant abdomen, Short nose	ORPHA:221054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Nausea and vomiting, Splenomegaly, Pancreatitis, Anorexia, Hepatomegaly, Abdom...	ORPHA:79312
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio...	ORPHA:1666
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Netherton Syndrome	Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Recurrent infection of the gastroint...	OMIM:256500
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology, Anorexia	ORPHA:2023
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma...	OMIM:616414
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Trichohepatoneurodevelopmental Syndrome	Recurrent otitis media, Hepatomegaly, High palate, Cholelithiasis, Gastroesophageal reflux, Downt...	OMIM:618268
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidiasis, Recurren...	OMIM:614162
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis, Abdominal distention	ORPHA:309263
Mcdonough Syndrome	Short stature, Cachexia, Cryptorchidism	ORPHA:2471
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Portal hypertension, Cryptorchidi...	OMIM:609136
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Thyroid Hypoplasia	Macroglossia, Growth delay, Hypothyroidism, Constipation, Abdominal distention, Short stature, Ja...	ORPHA:95720
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,...	OMIM:618849
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Nausea and vomiting, Erythema nodosum, Anorexia, ...	ORPHA:99827
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula...	ORPHA:3464
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Increased fecal coproporphyrin 3, Abnormal fear-induced behavior, Abdominal pain, Const...	ORPHA:100924
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:607748
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens	OMIM:277180
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Primary Effusion Lymphoma	Abdominal pain, Abnormal peritoneum morphology, Abdominal distention	ORPHA:48686
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Failure to thrive, Acute hepatic failure, Splenomeg...	OMIM:276700
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Neonatal death, Cachexia, High palate, Narrow palate	OMIM:618186
Matthew-Wood Syndrome	Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas...	ORPHA:2470
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,...	ORPHA:280356
Diencephalic Syndrome	Cachexia, Hyperhidrosis, Decreased body weight	ORPHA:1672
Rett Syndrome	Gastroesophageal reflux, Bruxism, Stereotypical hand wringing, Cachexia, Constipation, Short stature	OMIM:312750
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle...	OMIM:619938
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Delayed puberty, Short stature, Recurrent infection...	ORPHA:477814
Immunodeficiency 23	Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosu...	OMIM:615816
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Recur...	OMIM:620321
Alg6-Cdg	Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Jaundice, Macroglossia, ...	ORPHA:79320
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Abdominal distention	OMIM:174050
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Weight l...	ORPHA:309031
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell...	OMIM:619705
Meckel Syndrome, Type 4	Bile duct proliferation, Cleft palate	OMIM:611134
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Shuffling gait, Cholelithiasis, Recurrent upper respiratory tract infections, Diastema, Decreased...	OMIM:300534
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormal intestine morphology, Arthri...	ORPHA:85446
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Short stature, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract in...	OMIM:615139
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Abnormal lung mor...	ORPHA:60032
Cach Syndrome	Vomiting, Growth delay, Hepatosplenomegaly, Intrauterine growth retardation, Optic neuritis, Panc...	ORPHA:135
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Pneumocystis jirovecii pneumonia, Recurr...	OMIM:614069
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu...	OMIM:169400
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti...	OMIM:615952
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Otitis media, Ch...	OMIM:613807
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Mirage Syndrome	Aspiration pneumonia, Cryptorchidism, Decreased body weight, Achalasia, Hyperkalemia, Hypoplastic...	OMIM:617053
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr...	ORPHA:2241
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Polydipsia,...	ORPHA:537
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomiting, Decre...	OMIM:613658
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Growth delay, Persistent EB...	OMIM:616005
Granulomatosis With Polyangiitis	Keratitis, Nasal mucosa vasculitis, Tracheal stenosis, Episcleritis, Oral ulcer, Granulomatosis, ...	OMIM:608710
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Renal Agenesis	Anal atresia, Absent vas deferens, Aplasia/hypoplasia of the uterus, Pulmonary hypoplasia	ORPHA:411709
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Hyperhidrosis, Anorexia, Hepatomegaly	ORPHA:86893
Amed Syndrome, Digenic	Short stature, Hypoplasia of the uterus, Adrenal hypoplasia	OMIM:619151
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Microlissencephaly, Vaginal atresia, Hypoplasia of the uterus, S...	OMIM:617914
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Decreased liver func...	ORPHA:42
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Tongue telangiectasia, Portal hyper...	ORPHA:774
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Pancreatoblastoma	Vomiting, Diarrhea, Pancreatic calcification, Abdominal pain, Weight loss, Abdominal distention, ...	ORPHA:677
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:616873
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert...	OMIM:267010
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Depressed nasal bridge, Cholestasis, Elevated circulatin...	OMIM:618528
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Citrullinemia Type Ii	Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, De...	ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:618329
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat...	OMIM:610978
Sarcoidosis	Abnormal lymph node morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Hepatomegaly,...	ORPHA:797
Niemann-Pick Disease, Type B	Short stature, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:607616
Coccidioidomycosis	Pneumonia, Folliculitis, Increased circulating IgM level, Increased circulating IgG level, Abnorm...	ORPHA:228123
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ...	OMIM:264300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Depressed nasal bridge, Long philtrum, Decreased circulating IgA level, Wide mouth, Open mouth, C...	ORPHA:457485
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist...	OMIM:270420
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Failure to thrive, Abnormality of thyroid physiology, Intraute...	ORPHA:1830
Niemann-Pick Disease, Type A	Vomiting, Athetosis, Sea-blue histiocytosis, Microcytic anemia, Ascites, Inability to walk, Eleva...	OMIM:257200
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Anorexia, Ascites, Nausea and vomiting, Episodic abdominal pain, Weight loss, Pancre...	ORPHA:370348
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Meconium Aspiration Syndrome	Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothorax, Abnormal pulmon...	ORPHA:70588
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Short stature, Neutropenia	OMIM:617243
Seizures, Cortical Blindness, And Microcephaly Syndrome	Short stature, Growth delay, Bronchiectasis	OMIM:616632
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	ORPHA:98908
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Diarrhea, Malabsorption	OMIM:600955
Thyroid Hemiagenesis	Hyperparathyroidism, Graves disease, Increased circulating free T3, Hashimoto thyroiditis, Jaundi...	ORPHA:95719
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung...	ORPHA:169090
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid de...	ORPHA:83617
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino...	OMIM:618805
Chronic Hiccup	Abnormal eating behavior, Weight loss, Malnutrition	ORPHA:396
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Splenomega...	ORPHA:77297
Cleft Velum	Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumoni...	ORPHA:99772
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea	OMIM:614858
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Intrauterine growth retardation, Cachexia, Constipation, Feeding di...	OMIM:616801
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H...	ORPHA:752
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Long p...	OMIM:261515
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Thrombocytopenia, Neutropenia, Recurrent bacterial infections, Macrothrombo...	OMIM:603585
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Skin rash, Polycystic ovarie...	ORPHA:2298
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia, Arthritis	OMIM:604250
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h...	ORPHA:91354
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczematoid dermatitis, Failure to thrive in infancy, Hepatosplenomegaly, Villous atrophy, Psorias...	OMIM:606367
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va...	ORPHA:2968
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology	ORPHA:2290
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:300068
Temple Syndrome	Bifid uvula, Nasogastric tube feeding, Decreased response to growth hormone stimulation test, Pos...	ORPHA:254516
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Familial Visceral Myopathy	Hyperparathyroidism, Abdominal situs inversus, Anteverted nares, Prominent nasal bridge, Aganglio...	ORPHA:2604
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, Po...	ORPHA:96184
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Mednik Syndrome	Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Neonatal death, C...	OMIM:609313
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepat...	OMIM:614886
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Short stature, Neutropenia	OMIM:618752
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal...	OMIM:167800
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar...	ORPHA:95619
Antisynthetase Syndrome	Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pul...	ORPHA:81
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Glucose/Galactose Malabsorption	Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea	OMIM:606824
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abdomina...	ORPHA:234
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Recurrent pneumonia, Difficulty walking, Inability to walk, ...	ORPHA:464738
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Tropical Pancreatitis	Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca...	ORPHA:103918
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Abdominal distention, Hepatitis, Celiac dis...	ORPHA:186
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Recurrent bacterial infecti...	OMIM:615468
Trisomy X	Precocious puberty, Abdominal pain, Constipation, Premature ovarian insufficiency, Secondary amen...	ORPHA:3375
Chronic Atrial And Intestinal Dysrhythmia	Intestinal pseudo-obstruction, Failure to thrive, Decreased body weight	OMIM:616201
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Perianal absce...	OMIM:618108
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Intrauterine growth retardation, Growth delay, Aspiration pneumonia	OMIM:619057
45,X/46,Xy Mixed Gonadal Dysgenesis	Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor...	ORPHA:1772
Medullary Thyroid Carcinoma	Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Hyperhidrosis, Nod...	ORPHA:1332
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Narcolepsy Type 1	Precocious puberty, Constipation, Male sexual dysfunction, Female sexual dysfunction	ORPHA:2073
Sialuria	Wide nasal bridge, Long philtrum, Splenomegaly, Thin upper lip vermilion, Smooth philtrum, Hypopl...	OMIM:269921
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt...	ORPHA:254531
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Intrauterine growth retardation, Severe failure to thrive, Cachexia, Con...	ORPHA:371364
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Intractable diarrhea, Bifid uvula, Failure to thrive, Long phi...	OMIM:222470
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn...	ORPHA:98897
Hemophagocytic Syndrome Associated With An Infection	Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par...	ORPHA:158048
Cimdag Syndrome	Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Ataxia, Hepatomegaly, Feeding dif...	OMIM:619273
Temple Syndrome	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, De...	OMIM:616222
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Bone Marrow Failure Syndrome 5	Short stature, Pulmonary fibrosis, Growth delay, Oral leukoplakia	OMIM:618165
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Dysmetria, Hyperechogenic pancreas, Thin upper lip vermilion, ...	ORPHA:456312
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:602390
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Recurrent infections, Neutropenia	OMIM:620443
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge...	ORPHA:528
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Recurrent lower resp...	OMIM:620282
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis	OMIM:614743
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh...	OMIM:601847
Rat-Bite Fever	Vomiting, Diarrhea, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ...	ORPHA:31205
Donohue Syndrome	Hepatic fibrosis, Cholestasis, Postnatal growth retardation, Intrauterine growth retardation, Pan...	OMIM:246200
Neuroendocrine Tumor Of The Rectum	Hematochezia, Lack of bowel sounds, Elevated circulating hepatic transaminase concentration, Tene...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Lack of bowel sounds, Elevated circulating hepatic transaminase concentration, Tene...	ORPHA:100082
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Fa...	OMIM:212065
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,...	ORPHA:440437
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to th...	OMIM:557000
Acute Transverse Myelitis	Severe viral infection, Invasive parasitic infection, Gastroparesis, Disseminated nontuberculous ...	ORPHA:139417
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gou...	OMIM:232220
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Oligozoospermia, Premature ovarian i...	ORPHA:125
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Meckel Syndrome, Type 8	Depressed nasal ridge, Abdominal distention, Cleft upper lip, Short nose, Enlarged kidney, Cleft ...	OMIM:613885
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst...	OMIM:616433
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Arthritis...	ORPHA:42642
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy...	OMIM:611376
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar...	ORPHA:251992
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Diarrhea, Hepatic failure, Failure to thrive, Hyp...	OMIM:607765
Amyotrophic Lateral Sclerosis	Xerostomia, Nausea and vomiting, Cachexia, Dysphagia, Tongue atrophy, Agitation	ORPHA:803
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Elevated circulating hepatic transaminase concentration, Protracted...	ORPHA:100080
Parathyroid Carcinoma	Peptic ulcer, Polydipsia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid ...	ORPHA:143
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous ab...	OMIM:618282
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Hereditary Central Diabetes Insipidus	Diarrhea, Polydipsia, Vomiting, Weight loss, Growth delay	ORPHA:30925
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Elevated circulating hepatic transaminase concentration, A...	ORPHA:36426
Sepsis In Premature Infants	Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac...	ORPHA:90051
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, High palate, Pulmonary fibrosis	ORPHA:457240
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Intrauterine growth retardation, Cryptorchidism, Cachexi...	ORPHA:217346
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am...	OMIM:612702
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Recurrent upper respiratory tract infections, Colitis...	OMIM:613101
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia, Recurrent infections	ORPHA:88
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Diarrhea, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating ...	OMIM:256810
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Frasier Syndrome	Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis	OMIM:136680
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Pseudohermaphroditism, Female, With Skeletal Anomalies	Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea	OMIM:264270
Distal Duplication 5Q	Carious teeth, Eczematoid dermatitis, Long philtrum, Prominent nasal bridge, Narrow mouth, Crypto...	ORPHA:96097
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Adrenal insufficiency, Hepatic ste...	OMIM:619386
Anaplastic Thyroid Carcinoma	Goiter, Tracheoesophageal fistula, Weight loss, Nodular goiter, Dysphagia	ORPHA:142
Congenital Enterovirus Infection	Sepsis, Hepatitis, Leukopenia, Pleural effusion, Skin rash, Leukocytosis, Infectious encephalitis...	ORPHA:292
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Pulmonary fibrosis	ORPHA:210136
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Feeding difficulties, Decreased fertility, Weight los...	ORPHA:90794
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, Chronic otitis m...	OMIM:618063
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Abdominal pain, M...	ORPHA:319218
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Crigler-Najjar Syndrome Type 1	Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:79234
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete...	ORPHA:398079
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Groun...	OMIM:620233
Omenn Syndrome	Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia o...	OMIM:603554
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Hydrocele testis, Feeding difficulties	OMIM:618154
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Poikiloderma With Neutropenia	Recurrent pneumonia, Growth delay, Recurrent otitis media, Leukopenia, Skin rash, Recurrent sinus...	OMIM:604173
Cryptococcosis	Pneumonia, Vomiting, Osteomyelitis, Peritonitis, Prostatitis, Cirrhosis, Lymphoid leukemia, Media...	ORPHA:1546
Propionic Acidemia	Vomiting, Eczematoid dermatitis, Failure to thrive, Feeding difficulties in infancy, Constipation...	OMIM:606054
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Intrauterine growth retardation, Macrocytic anemia, Neutropenia, Gro...	OMIM:620501
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Sepsis, Hepatitis, Hemolytic anemia, Enteroviral encephalitis, Sc...	OMIM:308230
Immunodeficiency 92	Pneumonia, Persistent CMV viremia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangit...	OMIM:619652
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Diarrhea, Vomiting, Postnatal growth retardation, Splen...	ORPHA:79240
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Keratitis, Failure to thrive, Aspiration pneumonia, Nasogastri...	ORPHA:1018
Ciliary Dyskinesia, Primary, 10	Abnormal respiratory motile cilium morphology, Chronic sinusitis, Chronic otitis media, Recurrent...	OMIM:612518
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis, ...	OMIM:232800
Feingold Syndrome	Depressed nasal bridge, Annular pancreas, Abnormality of the spleen, Anteverted nares, Orofacial ...	ORPHA:1305
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98754
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal...	ORPHA:2255
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, E...	OMIM:137920
Graves Disease	Graves disease, Abnormal abdomen morphology, Goiter, Increased circulating free T3, Polyphagia, W...	OMIM:275000
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Failure to thrive, Osteomyelitis, Arthritis, Abdominal distention, Hepatomegaly...	OMIM:619423
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Abnormality of the gast...	ORPHA:33276
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting, Pancreatitis	OMIM:620137
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Obesity, Aggressive behavior, Cachexia, Hyperhidrosis, Hyperactivity, ...	ORPHA:85293
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Polyembryoma	Irregular menstruation, Abnormal peritoneum morphology, Abdominal distention, Abdominal mass, Abd...	ORPHA:180229
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ...	OMIM:309801
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Skin rash, Ileal ulcer, Anterior uveitis	OMIM:616744
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Periodontitis, Central adrenal insufficiency, Cr...	ORPHA:739
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Recurrent infections, Dysphagia, Intestinal pseudo-obstruction	OMIM:619780
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir...	OMIM:610910
Braddock Syndrome	Short stature, Intrauterine growth retardation, Pulmonary fibrosis	ORPHA:52047
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Cholelithiasis, Vomiting, Annular pancreas, Cleft lip,...	ORPHA:97297
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero...	OMIM:612567
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Micronodular ...	OMIM:203700
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Lipoid pneumonia, Nocturnal hypoventilation	OMIM:620326
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:260370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Increased body weight...	ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Vomiting, Feeding difficulties	OMIM:620646
Meckel Syndrome 12	Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus, Bifid uvula	OMIM:616258
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Hepatomegaly, Duodenal stenosis	ORPHA:1759
Huntington Disease	Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho...	ORPHA:399
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract...	ORPHA:252183
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem...	ORPHA:79078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Abnormal hepatic glycogen storage, Elevated circulating aspar...	ORPHA:2088
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ...	ORPHA:75234
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi...	OMIM:613610
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo...	OMIM:209950
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Small for gestational age, Secretory diarrhea, Cholestasis, ...	OMIM:619573
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Oral ulcer, Pustule, Neutropenia, Ataxia, Anorexia, Hepatomegaly,...	ORPHA:50918
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98793
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation	OMIM:600546
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent ur...	OMIM:613179
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Elevated stool chloride content, Abdom...	OMIM:214700
Immunodeficiency, Common Variable, 6	Recurrent bacterial infections, Recurrent respiratory infections, Glomerulonephritis	OMIM:613496
Primary Myelofibrosis	Hepatosplenomegaly, Portal hypertension, Splenomegaly, Cachexia, Anorexia, Hepatomegaly	ORPHA:824
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Carious teeth, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, ...	OMIM:612714
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Oral ulcer, Weight loss, An...	OMIM:619381
Lead Poisoning	Imbalanced hemoglobin synthesis, Increased circulating IgE level, Oligozoospermia, Abdominal dist...	ORPHA:330015
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Abdominal distention, Neonatal death	OMIM:619362
Syndromic Diarrhea	Hepatic fibrosis, Intractable diarrhea, Small for gestational age, Abnormality of the liver, Vill...	ORPHA:84064
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Abdominal distention, Microangiopathic hemolyt...	ORPHA:93552
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177904
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respiratory tract infections, Otiti...	OMIM:612541
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Bifid uvula, Annular pancre...	ORPHA:264450
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Increased hepat...	OMIM:619525
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Anasarca, Hypomagn...	OMIM:618183
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177901
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Myositis, Gastritis,...	ORPHA:809
Staphylococcal Necrotizing Pneumonia	Pneumonia, Sepsis, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Severe infection, Ac...	ORPHA:36238
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormal salivary gland morphology, Splenomegaly, Weight los...	OMIM:181000
Cerebrotendinous Xanthomatosis	Cholelithiasis, Diarrhea, Pseudobulbar paralysis, Difficulty walking, Ataxia	OMIM:213700
Immunodeficiency 17	Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Recurrent ...	OMIM:615607
8P Inverted Duplication/Deletion Syndrome	Wide nasal bridge, High, narrow palate, Long philtrum, Anteverted nares, Cryptorchidism, Abnormal...	ORPHA:96092
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in...	ORPHA:3260
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Vomiting, Elevated circulating hepatic transaminase concentratio...	OMIM:613070
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Abnormality of exocrine pancreas physiology, Papillary cystadenoma of the ep...	ORPHA:93111
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, High palate, Growth delay, ...	ORPHA:3306
22Q11.2 Deletion Syndrome	Carious teeth, Narrow mouth, Cryptorchidism, Feeding difficulties in infancy, Hypoparathyroidism,...	ORPHA:567
Mody	Exocrine pancreatic insufficiency, Hepatocellular adenoma, Elevated hemoglobin A1c, Pancreatic hy...	ORPHA:552
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Leukocyto...	ORPHA:3392
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Disproportionate short stature, Failure to thrive, Submucous cleft hard palate, Short...	OMIM:222765
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Recurrent infection of the gastrointesti...	OMIM:301110
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Postnatal growth retardation, Spleno...	OMIM:620210
Aredyld Syndrome	Intrauterine growth retardation, Splenomegaly, Cachexia, Hepatomegaly, Short stature	ORPHA:1133
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Weight loss, Macroglossia, Glossitis, Ovarian neoplasm, Poor appetite	ORPHA:2221
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Short...	ORPHA:109
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Yao Syndrome	Uveitis, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivi...	OMIM:617321
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Abnormal intestine morpholog...	ORPHA:977
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Delayed p...	OMIM:615866
Thyroid Ectopia	Growth delay, Lingual thyroid, Jaundice, Constipation, Hypothyroidism, Abdominal distention, Shor...	ORPHA:95712
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Skin rash, Respi...	ORPHA:79128
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, Lymphadenopathy, B lymphocytop...	OMIM:619164
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Neuroendocrine Tumor Of Stomach	Hepatic failure, Lack of bowel sounds, Elevated circulating hepatic transaminase concentration, P...	ORPHA:100075
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio...	ORPHA:98813
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Severe viral i...	OMIM:619644
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Intestinal fistula, Gas...	ORPHA:100078
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Pterygium, Congenital pyloric atresia, Nausea and vomiting, Intesti...	ORPHA:79403
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia	OMIM:620012
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Rhabdoid Tumor	Nausea and vomiting, Neoplasm of the liver, Weight loss, Abdominal pain, Poor appetite	ORPHA:69077
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Short stature	OMIM:210050
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Folinic Acid-Responsive Seizures	Difficulty walking, Broad-based gait, Abdominal distention, Ataxia	ORPHA:79097
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog...	OMIM:202110
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin...	ORPHA:361
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Broad-based gait, Abnormality of the sp...	ORPHA:2072
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent...	OMIM:618131
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s...	OMIM:214500
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi...	ORPHA:398069
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infections, Chronic neut...	OMIM:258360
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa...	OMIM:301081
Barth Syndrome	Recurrent infections in infancy and early childhood, Cyclic neutropenia, Recurrent bronchitis, Hy...	OMIM:302060
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Ascites, Hepatosplenomegaly, Hyp...	ORPHA:98850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari...	ORPHA:79259
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter, Chronic rhinitis, Hypothyroidism, Bronchiectasis	OMIM:617577
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia, Gastrostomy tube feeding in infancy	ORPHA:300605
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Rhizomelic arm shortening, L...	ORPHA:508542
Familial Chylomicronemia Syndrome	Failure to thrive, Hepatosplenomegaly, Nausea and vomiting, Hepatic steatosis, Decreased body wei...	ORPHA:444490
Central Diabetes Insipidus	Diarrhea, Polydipsia, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia	ORPHA:178029
Late-Onset Isolated Acth Deficiency	Diarrhea, Pituitary adenoma, Graves disease, Hepatitis, Adrenocorticotropin deficient adrenal ins...	ORPHA:199299
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Postnatal growth retardation, Intr...	OMIM:609981
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Growth delay, Gout, Pancreatitis, Delaye...	OMIM:232200
Infantile Krabbe Disease	Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Nasogastric tube feeding in infan...	ORPHA:206436
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro...	OMIM:616030
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Vipoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Nausea and v...	ORPHA:97282
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:306400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pulmonary fibrosis, Oral leukoplakia	OMIM:619767
Igg4-Related Ophthalmic Disease	Keratitis, Colon cancer, Increased circulating IgE level, Increased circulating IgG4 level, Siala...	ORPHA:449563
Cog8-Cdg	Protein-losing enteropathy, Failure to thrive	ORPHA:95428
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Disproportionate short-trunk short stature, Protuberant abdomen, Abdominal ...	OMIM:277300
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Urachal Cyst	Elevated circulating C-reactive protein concentration, Abdominal pain, Peritonitis	ORPHA:488
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Hijazi-Reis Syndrome	Gastroesophageal reflux, Postnatal growth retardation, Chronic constipation, Gastrostomy tube fee...	OMIM:301094
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Long philtrum, Exocrine pancreatic insufficiency, Absent gallbladder, Neo...	OMIM:618500
Gastrocutaneous Syndrome	Hiatus hernia, Peptic ulcer	OMIM:137270
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee...	OMIM:619971
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, T...	OMIM:604367
Immunodeficiency 115 With Autoinflammation	Recurrent viral infections, Eczematoid dermatitis, Superficial dermal perivascular inflammatory i...	OMIM:620632
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Recurrent respiratory inf...	OMIM:618523
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Gastroesophageal reflux, Feeding difficulties, Abdominal distention	OMIM:620275
Classic Hodgkin Lymphoma	Splenomegaly, Skin rash, Weight loss, Hyperhidrosis, Anorexia, Hepatomegaly, Poor appetite	ORPHA:391
Fraser Syndrome 2	Underdeveloped nasal alae, Intestinal malrotation, Narrow mouth, Hypoplasia of the thymus, Rectal...	OMIM:617666
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Polydipsia, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Nausea and ...	ORPHA:99880
Trisomy 10P	Depressed nasal bridge, Gastroesophageal reflux, Abnormality of the nose, Abnormal lip morphology...	ORPHA:171929
Systemic Capillary Leak Syndrome	Diarrhea, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis	ORPHA:188
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c...	OMIM:208500
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Long philtrum, Thick upper lip vermilion, Elevated ci...	OMIM:607330
Achondrogenesis Type 1A	Anteverted nares, Long philtrum, Short nose, Abdominal distention	ORPHA:93299
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Type II pneu...	OMIM:263000
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Abdominal distention, Stillbirth	OMIM:600972
Klatskin Tumor	Abdominal pain, Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Pneumocystosis	Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary ...	ORPHA:723
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac...	OMIM:131100
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Absent gallbladder, Solitary median maxillary central incisor,...	ORPHA:556955
Premature Ovarian Failure 15	Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ...	OMIM:618096
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Abdominal distention, Oral-pharyngeal dysphagia, Failure to thrive, Aggressiv...	ORPHA:2131
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Protuberant abdomen, Hepatomegaly, Recu...	OMIM:230900
Bardet-Biedl Syndrome	Inflammation of the large intestine, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism,...	ORPHA:110
Microphthalmia, Syndromic 9	Severe short stature, Multilobulated spleen, Agenesis of pulmonary vessels, Alveolar capillary dy...	OMIM:601186
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder,...	OMIM:600001
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Recurrent otitis media, Intrauterine growth retardation, Esoph...	OMIM:612562
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol...	ORPHA:90291
Acrodermatitis Enteropathica	Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Sho...	ORPHA:37
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach canc...	ORPHA:733
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Chronic mucocut...	ORPHA:391487
Mednik Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating ceruloplasmin conc...	ORPHA:171851
Takayasu Arteritis	Gastrointestinal infarctions, Increased inflammatory response, Weight loss, Hyperhidrosis, Arthri...	ORPHA:3287
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence	ORPHA:702
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Intrauterine growth retardation, Skin rash, Megaloblastic anemia, Neutropenia, Recu...	ORPHA:79284
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,...	ORPHA:562
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck	ORPHA:163961
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Delayed menarche, Hypothyroidism, Pancreatitis, Iridocyclitis, Dysphagia	ORPHA:412057
Orofaciodigital Syndrome Viii	Short stature, Recurrent aspiration pneumonia, Cleft palate, High palate	OMIM:300484
Prader-Willi Syndrome	Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Chronic constipation,...	OMIM:176270
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Malar rash, Skin rash, Splenomegaly, Neutropenia, Thrombocytopenia...	ORPHA:398124
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Arthritis, Abnormal pulmonary interstitial ...	ORPHA:732
Prolactinoma	Central adrenal insufficiency, Nausea and vomiting, Decreased fertility in females, Elevated circ...	ORPHA:2965
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Recurrent gram-negative bacteria...	OMIM:116920
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Vomiting, Hyperactive renin-angiotensin system, Failure to thrive, Abnormal female ext...	ORPHA:90790
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis, Intestinal polyposis, Lymphoid nodular hyperplasia	ORPHA:210548
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Decreased fertility, Feeding ...	ORPHA:273
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,...	ORPHA:420741
Blau Syndrome	Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Splenomegaly, Skin rash, Syno...	ORPHA:90340
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth...	ORPHA:96179
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Decreased fertility in femal...	ORPHA:91349
Reticular Dysgenesis	Diarrhea, Failure to thrive, Malabsorption, Skin rash, Weight loss, Chronic otitis media	ORPHA:33355
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Microphallus, Postnatal growth retardation, Intrauterine growth retardation, Abnor...	ORPHA:397590
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Postnatal growth retardation, Intrauterine growth retardation, Feeding diffic...	ORPHA:254525
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Recurrent infections, Feeding d...	OMIM:616395
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,...	OMIM:147060
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Failure to thrive,...	OMIM:214950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Cleft upper lip, Intesti...	OMIM:249000
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:79085
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Vomiting, Diarrhea, Failure to thrive, Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis, ...	OMIM:251000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Feeding difficulties in infancy, Thrombocytopenia, Normochromic anemia	OMIM:618775
Chitayat Syndrome	Short stature, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Erythrokeratodermia Variabilis	Short stature, Weight loss, Skin rash, Abnormal testis morphology	ORPHA:317
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Anemia, Neutropenia, ...	ORPHA:158061
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal morphology of female internal gen...	ORPHA:538
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Severe short stature, Lymphocytic interstitial pneumonia	OMIM:245590
Leprechaunism	Megarectum, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Postnatal growth retar...	ORPHA:508
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We...	ORPHA:424
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent pneumonia, Attention deficit hyperactivity disorder, Anal atresia, Cache...	ORPHA:647
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Chronic bronchitis, Sinusitis, Short stature, T lym...	OMIM:242860
Legionnaires Disease	Diarrhea, Hepatitis, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Abdominal pain, ...	ORPHA:549
Trisomy 18	Intrauterine growth retardation, Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Shor...	ORPHA:3380
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Cleft upper lip, Supernumerar...	OMIM:605039
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Short stature, Megaloblastic anemia, Neutropenia, Growth delay	OMIM:250940
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Abnormal circulating protein concentration, Weight loss, Gl...	ORPHA:48435
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Stomatitis	OMIM:618307
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Depressed nasal bridge, Cleft lip, Natal tooth, Hamartoma of tongue, Absent gallbladder, Absent n...	OMIM:617925
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Me...	OMIM:618999
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, Ad...	ORPHA:300373
Currarino Syndrome	Anal stenosis, Chronic constipation, Anal fistula, Perianal abscess, Abdominal distention, Gastro...	OMIM:176450
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Neutropen...	ORPHA:520
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis	OMIM:614073
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer...	OMIM:614878
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Immunodeficiency 10	Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren...	OMIM:612783
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Erythrodontia, Reduced erythrocyte uroporphyrinogen III cosynthas...	OMIM:263700
Behçet Disease	Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Malabsorption, Nausea and vomiting, S...	ORPHA:117
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dysphagia, Aspiration pneumonia	ORPHA:90117
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency	ORPHA:2047
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Oral leukoplakia, Intrauterine growth retardation, Short stature, Ab...	OMIM:613990
X-Linked Centronuclear Myopathy	Pneumonia, Feeding difficulties in infancy, High palate, Recurrent respiratory infections, Poor suck	ORPHA:596
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asc...	OMIM:619487
Congenital Factor Vii Deficiency	Menorrhagia, Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Polyarteritis Nodosa	Abdominal pain, Abnormality of the gastrointestinal tract, Weight loss, Pericarditis	ORPHA:767
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Malar rash, Skin rash, Pustule, Myositis, Recurrent respiratory infections, Pulmon...	OMIM:615934
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,...	OMIM:102700
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia	ORPHA:1933
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Choanal atresia, Underdeveloped nasal alae, Tracheal stenosis, Absent gallbladder, Cryptorchidism...	ORPHA:163979
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Seborrheic dermatitis, Eczematoid dermatitis	OMIM:619693
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Diarrhea, Vomiting, Gastroesophageal reflux, Long philtrum, Vil...	ORPHA:79328
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Abnormality of the dentition, Downturned ...	OMIM:617140
Craniofacioskeletal Syndrome	Choanal atresia, Tracheal stenosis, Absent gallbladder, Cryptorchidism, Thin upper lip vermilion,...	OMIM:300712
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic...	OMIM:618419
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Duodenal ulcer, Cerv...	ORPHA:722
Oculoskeletodental Syndrome	Protein-losing enteropathy, Cryptorchidism, Splenomegaly, Hepatomegaly, Macroglossia, Small for g...	OMIM:618440
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Rhizomelia, Leukopenia, Intrauterine growth retardation, Thrombocytopenia, N...	OMIM:616271
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Abdominal pain	OMIM:619290
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Gaucher Disease	Gingival bleeding, Pancytopenia, Increased circulating antibody level, Feeding difficulties in in...	ORPHA:355
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Vacterl/Vater Association	Anorectal anomaly, Abnormality of the gallbladder, Tracheal stenosis, Cryptorchidism, Tracheoesop...	ORPHA:887
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Postnatal growth retardation, Pancytopenia, Intrauterine growt...	ORPHA:2169
Atelosteogenesis Type I	Laryngotracheal stenosis, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology	ORPHA:1190
Triploidy	Intestinal malrotation, Abnormality of the gallbladder, Narrow mouth, Cryptorchidism, Abnormality...	ORPHA:3376
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcin...	OMIM:174900
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis, Pterygium	ORPHA:525
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Aspiration pneumonia	ORPHA:216866
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Elevated circulating hepatic tr...	ORPHA:2137
Nephroblastoma	Abdominal pain, Neoplasm of the liver, Weight loss	ORPHA:654
Diffuse Alveolar Hemorrhage	Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT	ORPHA:90060
Feingold Syndrome 1	Accessory spleen, Wide nasal bridge, Annular pancreas, Polysplenia, Depressed nasal tip, Antevert...	OMIM:164280
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Xerostomia, Arthritis, Pulmonary fibrosis, Dysphagia	ORPHA:220393
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr...	ORPHA:91
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Cryptorchidism, Hepatic steatosis, Cirrhosis, Abdominal distention, Hepat...	OMIM:270400
Septopreoptic Holoprosencephaly	Precocious puberty, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Central diabetes...	ORPHA:280195
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Short hard palate, Cachexia, Anorexia	ORPHA:1969
Alpha-1-Antitrypsin Deficiency	Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis, Hepatocellular carcinoma	ORPHA:60
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Elevated circulating hepatic transaminase concentration, Weight loss, Abnormal testis m...	ORPHA:54251
Osteogenesis Imperfecta	Ataxia, Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusi...	ORPHA:666
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Colon cancer, Pancreatic adenocarcinoma, Malabsor...	ORPHA:144
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Short stature,...	ORPHA:1867
Dyskeratosis Congenita, Autosomal Dominant 2	Short stature, Pulmonary fibrosis, Oral leukoplakia, Esophageal stricture	OMIM:613989
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp...	OMIM:607944
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Decreased testicular size, Intrauterine growth retardation, Cleft soft pa...	OMIM:619321
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Pancreatitis, Primary hyperparathyroidism	OMIM:600740
Pancreatic And Cerebellar Agenesis	Anemia, Pancreatic hypoplasia, Convex nasal ridge, Pancreatic aplasia	OMIM:609069
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto...	ORPHA:167
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Skin rash, Splenomegaly, Infectious encephalitis, Erythroderma, Neutropenia, Th...	ORPHA:540
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Abdominal distention	OMIM:619345
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S...	ORPHA:2796
Gastrocutaneous Syndrome	Hiatus hernia, Peptic ulcer	ORPHA:2069
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	High palate, Pancreatitis, Hepatic steatosis, Failure to thrive	OMIM:236200
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Interstitial Cystitis	Abnormal vagina morphology, Urinary bladder inflammation, Abnormality of the menstrual cycle, Abn...	ORPHA:37202
Chronic Granulomatous Disease	Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Otitis media, Splenomegaly, Gingivitis, I...	ORPHA:379
Fatal Familial Insomnia	Constipation, Dysphagia, Hyperhidrosis, Weight loss	OMIM:600072
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Depressed nasal bridge, Bilateral cryptorchidism, Bulbous nose, Lymphopenia, P...	OMIM:242900
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis	OMIM:615190
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Hepatosplenom...	OMIM:607014
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Polymicrogyria, Streak...	OMIM:618820
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Emphysema, Pleural effusion, Episcleritis, Skin rash, Inflammatory abnormality of...	ORPHA:36412
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Hepatomegaly, Severe s...	ORPHA:1842
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Cervical lymphadenopathy, Gangl...	ORPHA:653
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon, Portal hypertension, Hepatic failure	OMIM:619431
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty	ORPHA:217377
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormal pulmonary interstitial morphology, Acute...	ORPHA:178320
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We...	ORPHA:99819
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepa...	ORPHA:26791
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob...	OMIM:618160
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti...	OMIM:301074
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou...	ORPHA:29207
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Pulmonary fibrosis, Hematochezia	OMIM:203300
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Failure to thrive, Long philtrum, Bilateral cryptorchidism, Decreased respon...	ORPHA:485405
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Short stature, D...	OMIM:151100
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutrope...	OMIM:617941
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Weight loss, Constipation	ORPHA:85447
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Megaloblastic anemia, Short stature, Neutropenia, Thrombocytopenia, Anem...	OMIM:277380
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Nausea and vomit...	ORPHA:91351
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Primary hypercortisolism, Ovarian cyst, Pancreatitis, Trunc...	OMIM:610475
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Pituitary Gigantism	Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Pituitary growth...	ORPHA:99725
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,...	ORPHA:544482
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret...	OMIM:616113
Short-Rib Thoracic Dysplasia 12	Pulmonary hypoplasia, Atelectasis, Hamartoma of tongue, Intestinal malrotation, Median cleft pala...	OMIM:269860
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Lacrimal duct stenosis, Constipation, Intestinal pseudo-obstruction, Cryptorchidism	ORPHA:73246
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Cleft palate, Abdominal distention	ORPHA:85166
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a...	ORPHA:906
Pentalogy Of Cantrell	Polysplenia, Absent gallbladder, Orofacial cleft, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1335
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis	OMIM:612852
Farber Disease	Recurrent upper respiratory tract infections, Hepatic failure, Atelectasis, Nodular pattern on pu...	ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Gastroesophageal ref...	OMIM:613177
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po...	ORPHA:453533
Omenn Syndrome	Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Eryt...	ORPHA:39041
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia, Growth delay	OMIM:614857
Isolated Permanent Neonatal Diabetes Mellitus	Downturned corners of mouth, Reduced pancreatic beta cells, Pancreatic hypoplasia, Ataxia	ORPHA:99885
Mucopolysaccharidosis-Plus Syndrome	Nephritis, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Anemia, Neutropenia, Thrombocyt...	OMIM:617303
Dystonia 28	Precocious puberty, Hypothyroidism, Short stature, Dysphagia	ORPHA:589618
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Nausea and vomiting, Pancreatitis	ORPHA:27
Irida Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis	ORPHA:209981
Typhoid	Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Skin rash, Infectious en...	ORPHA:99745
Multiple Osteochondromas	Short stature, Dysphagia, Arthritis, Intestinal obstruction	ORPHA:321
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Parathyroid carcinoma, Pituitary ...	ORPHA:276152
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholel...	OMIM:188400
Pendred Syndrome	Hyperparathyroidism, Goiter, Tracheal stenosis, Hypothyroidism, Ataxia	ORPHA:705
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Diarrhea, Splenomegaly, Abdominal pain, Weight loss, Hepatomegaly, Nausea	ORPHA:98849
Hereditary Fructose Intolerance	Vomiting, Diarrhea, Jaundice, Constipation, Abdominal pain, Chronic hepatic failure, Abdominal di...	ORPHA:469
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Keratoconjunctivitis, Weight loss, A...	ORPHA:79242
Ketamine-Induced Biliary Dilatation	Abdominal pain, Abnormal biliary tract morphology	ORPHA:293807
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmetria, Thin upper lip...	OMIM:616263
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Pulmonary hemorrhage, Recurr...	ORPHA:79124
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Hepatosplenomegaly, Malabsorption, Intrauterine growth retardatio...	ORPHA:499009
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Duodenal stenosis	ORPHA:2547
Ovarian Hyperstimulation Syndrome	Ascites, Hemorrhagic ovarian cyst, Nausea and vomiting, Ovarian cyst, Enlarged polycystic ovaries...	ORPHA:64739
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Failure to thrive, Elevated circulating aspartate aminotransferase conc...	OMIM:227810
Popliteal Pterygium Syndrome	Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o...	OMIM:119500
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Recurrent bronchitis, Otitis media, Splenomega...	ORPHA:1572
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Severe short stature, Protuberant abdomen, Cleft palate, Disproportionate short-limb short stature	OMIM:184250
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Susceptibility to c...	OMIM:250250
Tetrasomy 9P	Absent gallbladder, Glue ear, Cryptorchidism, Oligozoospermia, Jaundice, High palate, Downturned ...	ORPHA:3310
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Protuberant abdomen, Cleft palate, Enlarged kidney...	OMIM:608022
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
American Trypanosomiasis	Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lym...	ORPHA:3386
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Anteriorly placed anus, Biliary atresia	OMIM:615272
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Increased circulating cortisol level, Protracted diarrhea, Bowel urge...	ORPHA:97287
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Williams Syndrome	Carious teeth, Open bite, Nausea and vomiting, Cryptorchidism, Polycystic ovaries, Everted lower ...	ORPHA:904
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Carious teeth, Delayed eruption of teeth, Difficulty walking, Enamel hypoplasi...	OMIM:277440
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Oral leukoplakia, Postnatal growth retardation, Intrauterine growth retardat...	OMIM:612199
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Tracheal stenosis, A...	OMIM:217980
Isaacs Syndrome	Weight loss, Hyperhidrosis	ORPHA:84142
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated circulating alanine...	OMIM:619534
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Cardiomegaly, Hepatomegaly, Chronic hepatic failure, Cirrhosis...	ORPHA:465508
Spondyloepimetaphyseal Dysplasia, Shohat Type	Premature osteoarthritis, Tracheal stenosis, Hepatosplenomegaly, Abdominal distention	ORPHA:93352
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Small scrotum, Cryptorchidism, Severe postnatal growth retardation, High palate, Micro...	ORPHA:98905
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co...	OMIM:235555
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Abnormal pulmonary interstitial morphology	OMIM:619013
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Supernumerary nipple, Recurrent otitis media, Cryptorchidism, Anal atresia	OMIM:619243
Wild Type Attr Amyloidosis	Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Hepatomegaly, Chronic diarrhea,...	ORPHA:330001
Oromandibular Dystonia	Bruxism, Weight loss, Dysphagia	ORPHA:93958
Addison Disease	Diarrhea, Failure to thrive, Celiac disease, Primary adrenal insufficiency, Nausea and vomiting, ...	ORPHA:85138
Dyskeratosis Congenita, Autosomal Recessive 1	Pulmonary fibrosis, Oral leukoplakia, Esophageal stricture	OMIM:224230
Multiple Endocrine Neoplasia Type 1	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary thyro...	ORPHA:652
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi...	OMIM:262190
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Goiter, Decreased circulating T4 concentration, Congenital hypothyroidism, Feeding ...	OMIM:218700
Fg Syndrome Type 1	Small pituitary gland, Choanal atresia, Broad-based gait, Gastroesophageal reflux, Abnormal large...	ORPHA:93932
Immune-Mediated Necrotizing Myopathy	Skin rash, Myositis, Myocarditis, Abnormal pulmonary interstitial morphology, Dysphagia	ORPHA:206569
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, Oral ulcer, Acute mye...	OMIM:617052
Mu-Heavy Chain Disease	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:100024
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Cleft palate, Atelectasis	ORPHA:2314
Diamond-Blackfan Anemia 11	Short stature, Neutropenia, Anemia of inadequate production	OMIM:614900
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Protuberant abdomen	OMIM:618272
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Melas	Vomiting, Diarrhea, Intestinal pseudo-obstruction, Failure to thrive, Gastrointestinal dysmotilit...	ORPHA:550
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Primary hypothyroidism, Short philtr...	ORPHA:96176
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Malnutrition, Weight loss, Odynophagia, Feeding difficulties	ORPHA:221098
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp...	ORPHA:2363
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Congenital Respiratory-Biliary Fistula	Tracheal stenosis, Abnormality of the liver	ORPHA:2040
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Pneumothorax, Growth delay, Neutropenia	ORPHA:445038
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Splenomegaly, Neutr...	OMIM:617050
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti...	ORPHA:77293
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Abdomi...	ORPHA:2929
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight loss, Anorexia, Hep...	ORPHA:507
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Recurrent lower respiratory tract infections, Intrauterine growth retardation, Neu...	OMIM:618005
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Fasciitis, Acute hepatitis, ...	ORPHA:39812
Cohen Syndrome	Short stature, Leukopenia, Delayed puberty, Neutropenia	OMIM:216550
Lysinuric Protein Intolerance	Hepatic failure, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Fai...	ORPHA:470
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card...	OMIM:235200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Broad nasal tip, Xerostomia, Carious teeth, Selective tooth agenesis, Cleft uppe...	OMIM:129900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Dysphagia	ORPHA:2590
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Sepsis, Pancreatitis	ORPHA:70578
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Duodenal atresia, Polysplenia, Intestinal malrotation, Chronic sinusitis, Chronic otitis media	OMIM:619608
Avian Influenza	Pneumonia, Myelitis, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious enc...	ORPHA:454836
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyng...	ORPHA:95455
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea	ORPHA:2975
Lujo Hemorrhagic Fever	Vomiting, Diarrhea, Atelectasis, Nausea, Abdominal cramps, Fulminant hepatitis, Dysphagia, Odynop...	ORPHA:319213
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Malar rash, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-nega...	OMIM:603909
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Disproportionate short-trunk short stature, Small for gestational age, Protuberant abdomen	OMIM:613330
Gm1 Gangliosidosis	Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegal...	ORPHA:354
Steinfeld Syndrome	Bifid uvula, Absent gallbladder, Median cleft palate, Median cleft upper lip, Aplasia of the nose	OMIM:184705
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Carious teeth, Widely spaced teeth, Protuberant abdome...	OMIM:617102
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Recurren...	ORPHA:3226
Limb-Mammary Syndrome	Bifid uvula, Absent nipple, Breast aplasia, Psoriasiform dermatitis, Aplasia of the ovary, Submuc...	ORPHA:69085
Cartilage-Hair Hypoplasia	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Tracheal stenosis, Anteverted n...	ORPHA:175
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Splenomegaly, Thin vermilion border, Abdominal distention	OMIM:602557
Optic Pathway Glioma	Precocious puberty, Nausea, Vomiting, Growth delay	ORPHA:2086
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss, Erythroderma, Poor appetite	ORPHA:312
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Wolcott-Rallison Syndrome	Lymphocytosis, Iron deficiency anemia, Neutropenia, Short stature, Recurrent infections, Growth d...	ORPHA:1667
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Mucopolysaccharidosis Type 3	Abnormality of the dentition, Recurrent tonsillitis, Aspiration pneumonia, Thick nasal alae, Mala...	ORPHA:581
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hypoparathyroidism, Hepatomegaly, Hypoplast...	ORPHA:699
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa...	OMIM:145001
Jacobsen Syndrome	Wide nasal bridge, Bone marrow hypocellularity, Annular pancreas, Eczematoid dermatitis, Broad co...	ORPHA:2308
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Short stature, Abnormal pulmonary interstitial morphology, Recurrent respira...	ORPHA:209905
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Tracheal stenosis, Narrow mouth, Cryptorchidism, Orofacial...	ORPHA:3301
Serkal Syndrome	Malrotation of small bowel	ORPHA:139466
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Anal stenosis, Carious teeth, Xerostomia, Anteriorly placed anus, Selective toot...	OMIM:604292
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:617156
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Skin rash, Recurrent...	ORPHA:331206
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Protuberan...	OMIM:200610
Frontometaphyseal Dysplasia 2	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Broad nasal tip, Gastroesophageal reflux,...	OMIM:617137
Aceruloplasminemia	Abnormal pancreas morphology, Akinesia, Limb ataxia, Gait ataxia, Hypochromic microcytic anemia, ...	ORPHA:48818
Hypophosphatasia	Emphysema, Short stature	ORPHA:436
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Malabsorption, Psoriasi...	ORPHA:168569
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans, Eczematoid dermatitis	OMIM:617241
Vici Syndrome	Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Postnatal...	OMIM:242840
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Neutrophilic infiltration of the skin, Recurrent viral infections...	OMIM:618048
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration, Skin rash, Synovitis, Glomerulonephritis, Arthriti...	ORPHA:567544
Cerebrotendinous Xanthomatosis	Cholelithiasis, Gait disturbance, Hypothyroidism, Ataxia, Prolonged neonatal jaundice, Chronic di...	ORPHA:909
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly	ORPHA:2348
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Poor suck	OMIM:619518
Maple Syrup Urine Disease, Type Ia	Feeding difficulties in infancy, Vomiting, Pancreatitis	OMIM:248600
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Delayed eruption of teeth, Difficulty walking, Leukocytosis, Splenomegaly, En...	ORPHA:289157
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis, Recurrent skin infections	OMIM:612840
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Microcytic anemia, Chronic constipation, Increased circulating antibody l...	OMIM:256040
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Tracheal stenos...	OMIM:601427
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal...	OMIM:263200
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye...	ORPHA:33577
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocy...	ORPHA:20
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Congenital pyloric atresia, Abdominal distention	ORPHA:158684
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology	ORPHA:2847
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract...	ORPHA:60025
Hurler-Scheie Syndrome	Depressed nasal bridge, Tracheal stenosis, Splenomegaly, Thick vermilion border, Hepatomegaly	OMIM:607015
Fryns Syndrome	Wide nasal bridge, Meckel diverticulum, Polysplenia, Long philtrum, Intestinal malrotation, Cleft...	OMIM:229850
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Constipation, Decreased circulating t...	OMIM:618162
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Follicular Lymphoma	Weight loss, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Dysphagia	ORPHA:449427
Lysinuric Protein Intolerance	Vomiting, Diarrhea, Failure to thrive, Malnutrition, Splenomegaly, Pancreatitis, Protein avoidanc...	OMIM:222700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Growth delay, Secondary hyperparathyroidism, Protuberant abdomen	OMIM:264700
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Failure to thrive, Aspiration pneumonia	ORPHA:431361
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypog...	OMIM:209900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Gastroesophageal reflux, Atelectasis, Protruding tongue, Recurrent lower respirator...	ORPHA:258
Cockayne Syndrome	Severe short stature, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentr...	ORPHA:191
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchi...	ORPHA:662
17Q12 Microdeletion Syndrome	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Feeding difficulties, Pa...	ORPHA:261265
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Biliary atresia	ORPHA:565899
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ...	ORPHA:157794
Thymoma	Rheumatoid arthritis, Ulcerative colitis, Myositis, Weight loss, Glomerulonephritis, Neoplasm of ...	ORPHA:99867
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Peptic ulcer, Pancreatitis, Episodic abdominal pain	ORPHA:405
Malakoplakia	Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Abnormality of the ...	ORPHA:556
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia, Recurrent respiratory infecti...	OMIM:241600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC...	OMIM:614736
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Cryptorchidism, Submucous cleft hard palate, A...	ORPHA:2189
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Geleophysic Dysplasia 3	Pneumonia, Wide nasal bridge, Depressed nasal bridge, Long philtrum, Bulbous nose, Tracheal steno...	OMIM:617809
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Solitary Fibrous Tumor	Pelvic mass, Neoplasm of the liver, Constipation, Weight loss, Abnormal peritoneum morphology	ORPHA:2126
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Recurrent infections, Sepsis	ORPHA:204
Campomelia, Cumming Type	Abnormal intestine morphology, Abnormality of the pancreas, Hepatomegaly, Pancreatic cysts, Cleft...	ORPHA:1318
Saul-Wilson Syndrome	Short stature, Postnatal growth retardation, Intrauterine growth retardation, Neutropenia	OMIM:618150
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Weight loss, Increased circulating free T4 concentration, Hyperthyroidism, Increased circ...	OMIM:613239
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Intraalveolar phospholipid accumu...	OMIM:615486
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Anteverted nares, Narrow mouth,...	ORPHA:1790
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Intrauterine growth retardation, Proportionate short stature, Feeding diffi...	ORPHA:3208
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp...	ORPHA:284
Netherton Syndrome	Eczematoid dermatitis, Emphysema, Skin rash, Erythroderma, Short stature, Recurrent respiratory i...	ORPHA:634
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Protuberant abdomen, Cleft palate, Stillbirth	OMIM:269250
Schwartz-Jampel Syndrome	Decreased testicular size, Decreased body weight, Feeding difficulties in infancy, Attention defi...	ORPHA:800
Bloom Syndrome	Recurrent upper respiratory tract infections, Bronchiectasis, Postnatal growth retardation, Azoos...	OMIM:210900
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Anal atresia, Hypoproteinemia, Anasarca	OMIM:260450
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis, Pierre-Robin se...	OMIM:620183
Neuroblastoma	Abdominal mass, Chronic diarrhea, Weight loss, Abdominal distention	ORPHA:635
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased testicu...	ORPHA:90695
Timothy Syndrome	Pneumonia, Recurrent infections, Bronchitis	OMIM:601005
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Bifid uvula, Cleft palate, Decreased body weight	OMIM:300958
Distal Deletion 12Q	High, narrow palate, Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenom...	ORPHA:96149
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection...	OMIM:619632
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Atopic dermatitis, Hepatitis, Intrauterine...	OMIM:615846
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Rectal fis...	OMIM:115470
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Abdominal pain	ORPHA:676
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Obesity, Acne, Biliary tract abnormality	ORPHA:3191
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Oral ulcer, Erythema nodos...	OMIM:615688
Xfe Progeroid Syndrome	Severe short stature, Elevated circulating hepatic transaminase concentration, Failure to thrive,...	OMIM:610965
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Gastroesophageal reflux, Polymicrogyria, Intrauterine growth reta...	ORPHA:79243
Marburg Hemorrhagic Fever	Uveitis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Bloody diar...	ORPHA:99826
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Wolfram Syndrome 2	Peptic ulcer	OMIM:604928
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Widely spaced teeth, Recurrent otitis media, Gingiv...	OMIM:253220
Hypercalcemia, Infantile, 1	Vomiting, Weight loss, Failure to thrive	OMIM:143880
Smith-Magenis Syndrome	Precocious puberty, Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Feeding diffi...	ORPHA:819
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Neutropenia	OMIM:609053
Dyskeratosis Congenita, Autosomal Dominant 1	Pulmonary fibrosis, Interstitial pneumonitis, Oral leukoplakia	OMIM:127550
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Fasciitis, Ascites, ...	ORPHA:99921
Kasabach-Merritt Phenomenon	Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal ly...	ORPHA:2330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Gastroesophageal reflux, Decreased circul...	ORPHA:500150
Juvenile Huntington Disease	Weight loss, Hyperactivity	ORPHA:248111
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections	ORPHA:309288
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Skin rash, Myositis, Arthritis, Pulmonary fibrosis, Dysphagia, Peric...	ORPHA:93672
Fibrochondrogenesis 1	Depressed nasal bridge, Stillbirth, Long philtrum, Anteverted nares, Narrow mouth, Protuberant ab...	OMIM:228520
Arboleda-Tham Syndrome	Recurrent otitis media, Narrow mouth, Dysphagia, Chronic otitis media, Gastroesophageal reflux, B...	OMIM:616268
Good Syndrome	Recurrent urinary tract infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, A...	ORPHA:169105
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Meckel Syndrome 14	Hepatic fibrosis, Anteverted nares, Protuberant abdomen, Abdominal distention	OMIM:619879
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Mucolipidosis Ii Alpha/Beta	Depressed nasal bridge, Recurrent pneumonia, Tip-toe gait, Long philtrum, Recurrent otitis media,...	OMIM:252500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Downturned corners of mouth, Inability to walk, Ankyloglossia, Feeding difficul...	ORPHA:488642
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Duodenal Atresia	Duodenal atresia	OMIM:223400
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Hyper-Igd Syndrome	Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl...	OMIM:260920
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Choanal atresia, Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Bul...	OMIM:616975
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Wide nasal bridge, Hepatic failure, H...	OMIM:218330
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Intrauterine growth retardation, Abnormality of the gallbladder, C...	ORPHA:2075
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Short stature	OMIM:600901
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia	OMIM:275350
Tarp Syndrome	Hepatic failure, Meckel diverticulum, Failure to thrive, Neonatal death, High palate, Glossoptosi...	OMIM:311900
1P36 Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Annula...	ORPHA:1606
19P13.3 Microduplication Syndrome	Precocious puberty, Gastroesophageal reflux, Intrauterine growth retardation, Constipation, Episo...	ORPHA:447980
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Eczematoid de...	OMIM:615895
Giant Cell Arteritis	Hepatic failure, Gastrointestinal infarctions, Weight loss, Hyperhidrosis, Arthritis, Anorexia, A...	ORPHA:397
Jung Syndrome	Wide nasal bridge, Depressed nasal bridge, Tracheal stenosis, Hypothyroidism	ORPHA:2321
Polycythemia Vera	Early satiety, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Portal vein thromb...	ORPHA:729
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Gastroesophageal reflux, Failure to thrive, Large for gestational age, Anal a...	ORPHA:261652
8P23.1 Microdeletion Syndrome	Intrauterine growth retardation, Obesity, Cryptorchidism, Attention deficit hyperactivity disorde...	ORPHA:251071
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting...	ORPHA:91347
Ataxia-Telangiectasia	Failure to thrive, Recurrent bronchitis, Hypoplasia of the thymus, Recurrent lower respiratory tr...	OMIM:208900
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Decreased body weight, Cardiomegaly,...	OMIM:620371
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic...	ORPHA:83628
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen...	OMIM:309900
Craniopharyngioma	Increased circulating prolactin concentration, Hypogonadism, Postnatal growth retardation, Hypopi...	ORPHA:54595
Fibrochondrogenesis 2	Anteverted nares, Protuberant abdomen, Short nose	OMIM:614524
Mowat-Wilson Syndrome	Wide nasal bridge, Tooth malposition, Abnormal enteric ganglion morphology, Vomiting, Delayed eru...	OMIM:235730
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Tracheoesoph...	OMIM:227646
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Gastroesophageal reflux, Narrow mouth, Chronic constipation, Exaggerated cupid's bow...	OMIM:619480
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C...	OMIM:154500
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Glycogen Storage Disease Ic	Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Delayed puberty,...	OMIM:232240
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Precocious puberty, Premature adrenarche, High, narrow palate, Gastroesophageal reflux, Vomiting,...	ORPHA:96182
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia...	ORPHA:707
Fanconi Anemia, Complementation Group F	Pneumonia, Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test...	OMIM:603467
Macs Syndrome	Recurrent aphthous stomatitis, Cryptorchidism, Decreased body weight, Short stature, High palate,...	OMIM:613075
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, El...	ORPHA:231111
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Gastroesophageal reflux, Broad nasal tip, Nasal congestion, Thick nasal al...	ORPHA:79345
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Feeding difficulties in infancy, Choanal atresia, Gastroesophageal reflux, Abnorm...	ORPHA:818
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Hypo...	OMIM:268400
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty, Simplified gyral pattern	OMIM:619877
Muir-Torre Syndrome	Colonic diverticula, Duodenal adenocarcinoma, Benign gastrointestinal tract tumors, Adenoma sebac...	OMIM:158320
Chromomycosis	Recurrent bacterial infections, Abnormal lung morphology, Keratoconjunctivitis sicca, Keratitis	ORPHA:182
Erdheim-Chester Disease	Osteomyelitis, Pleural effusion, Skin rash, Abnormal pulmonary interstitial morphology, Pulmonary...	ORPHA:35687
Chand Syndrome	Bifid tongue, Imperforate hymen, Cleft palate, Atelectasis	ORPHA:1401
Niemann-Pick Disease, Type C2	Pulmonary fibrosis, Dysphagia	OMIM:607625
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Hypoparathyroi...	ORPHA:2237
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Short stature	OMIM:227650
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Recurrent infections, Growth delay, Neutropenia	OMIM:615471
Huntington Disease-Like 2	Weight loss	OMIM:606438
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Wide nasal bridge, Vomiting, Depressed nasal bridge,...	OMIM:619418
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Stickler Syndrome	Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Feeding difficulties in i...	ORPHA:828
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Small pituitary gland, Long philtrum, Widely spaced te...	OMIM:619479
Schinzel-Giedion Syndrome	Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Anteriorly placed anus, Failure to...	ORPHA:798
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Precocious puberty	ORPHA:457260
Beta-Ketothiolase Deficiency	Vomiting, Diarrhea, Oral aversion, Weight loss, Anorexia, Hepatomegaly, Agitation	ORPHA:134
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt...	ORPHA:100026
Plasminogen Deficiency, Type I	Conjunctivitis, Duodenal ulcer, Periodontitis, Nephritis	OMIM:217090
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Vomiting, Inflammatory abnormality of the...	ORPHA:26793
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Pauci-Immune Glomerulonephritis	Arteritis, Scleritis, Abnormality of the gastrointestinal tract, Pancreatitis, Glomerulonephritis...	ORPHA:93126
Non-Functioning Paraganglioma	Nausea, Weight loss, Episodic abdominal pain, Episodic hyperhidrosis	ORPHA:94080
Keutel Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Recurrent otitis media, Recurrent sinusitis, T...	ORPHA:85202
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Recurrent urinary tract infections, Psoriasiform dermatitis, Recurren...	ORPHA:221139
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa...	ORPHA:97289
Fanconi Anemia, Complementation Group C	Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytopenia, Neutropenia, Thrombocyt...	OMIM:227645
Rabson-Mendenhall Syndrome	Precocious puberty, Recurrent infections, Clitoral hypertrophy, Long penis, Insulin-resistant dia...	ORPHA:769
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	High palate, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia	ORPHA:536467
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Liposarcoma	Abdominal pain, Weight loss, Nausea and vomiting	ORPHA:69078
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Failure to thrive	ORPHA:293181
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Protuberant abdomen, Severe short-limb dwarfism, Cleft palate	ORPHA:2347
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Protruding tongue, Protuberan...	OMIM:200600
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gastroparesis, Intestinal pseudo-obstruction	ORPHA:70595
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis	OMIM:614204
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Oral ulcer, Elevated c...	OMIM:620376
Viss Syndrome	Cleft soft palate, Chronic constipation, Abdominal distention, Celiac disease, High palate, Dysph...	OMIM:619472
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
19P13.12 Microdeletion Syndrome	Precocious puberty, Obesity, Intrauterine growth retardation, Hyperlipidemia, Cryptorchidism, Hep...	ORPHA:254346
Meier-Gorlin Syndrome 4	Emphysema, Intrauterine growth retardation, Birth length less than 3rd percentile, Short stature	OMIM:613804
Jacobsen Syndrome	Depressed nasal bridge, Annular pancreas, Anteverted nares, Cryptorchidism, Thrombocytopenia, U-S...	OMIM:147791
Simple Cryoglobulinemia	Nephritis, Gastrointestinal hemorrhage, Viral hepatitis, Abnormality of the gastrointestinal trac...	ORPHA:91139
Hermansky-Pudlak Syndrome 6	Recurrent upper respiratory tract infections, Pulmonary fibrosis, Anal atresia, Perineal fistula	OMIM:614075
Camurati-Engelmann Disease	Slender build, Splenomegaly, Feeding difficulties in infancy, Cachexia, Delayed puberty, Anorexia...	ORPHA:1328
Cholera	Vomiting, Diarrhea, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia, Abdominal pain...	ORPHA:173
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Long philtrum, Cleft upper lip, Cryptorchidism, Congenital hepatic fibros...	ORPHA:93271
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Disproport...	ORPHA:1855
Atelosteogenesis, Type I	Depressed nasal bridge, Cryptorchidism, Neonatal death, Protuberant abdomen, Stillbirth, Cleft pa...	OMIM:108720
Peters Plus Syndrome	Rhizomelia, Disproportionate short-limb short stature, Intestinal fistula, Postnatal growth retar...	ORPHA:709
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper l...	OMIM:263520
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:881
Exstrophy-Epispadias Complex	Penoscrotal transposition, Anal stenosis, Male sexual dysfunction, Bifid scrotum, Female sexual d...	ORPHA:322
Hereditary Late-Onset Parkinson Disease	Agitation, Chronic constipation, Weight loss, Dysphagia, Impulsivity	ORPHA:411602
Trichothiodystrophy	Eczematoid dermatitis, Increased mean corpuscular hemoglobin concentration, Intrauterine growth r...	ORPHA:33364
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Cryptorchidism, Narrow palat...	OMIM:235510
Glycerol Kinase Deficiency	Vomiting, Adrenal insufficiency, Chronic pancreatitis, Cryptorchidism, Episodic vomiting, Short s...	OMIM:307030
Slc35A2-Cdg	Precocious puberty, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone con...	ORPHA:356961
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Failure to thrive	ORPHA:349
Thanatophoric Dysplasia, Type I	Lethal short-limbed short stature, Disproportionate short-limb short stature, Protuberant abdomen...	OMIM:187600
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia, Skin rash	ORPHA:220295
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Duodenal ...	OMIM:265380
Myhre Syndrome	Abnormal penis morphology, Precocious puberty, Severe short stature, Bifid uvula, Hypogonadism, E...	ORPHA:2588
Tropical Calcific Pancreatitis	Pancreatic calcification, Abdominal pain, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Spl...	ORPHA:116
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Ski...	ORPHA:829
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Recurrent pneumonia, Bilateral cryptorchidism, Chronic constipation, High palate, Sh...	OMIM:300472
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Se...	ORPHA:293978
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Feeding difficulties	OMIM:618278
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Anal atresia, Abdominal distention	OMIM:271520
Neu-Laxova Syndrome 2	Intrauterine growth retardation, High palate, Protuberant abdomen, Cleft palate	OMIM:616038
Chromosome Xp11.23-P11.22 Duplication Syndrome	Precocious puberty	OMIM:300801
Ollier Disease	Precocious puberty	ORPHA:296
Mucolipidosis Type Ii	Depressed nasal bridge, Inability to walk, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly,...	ORPHA:576
Orofaciodigital Syndrome Ix	Short stature, Recurrent aspiration pneumonia, Cleft palate, High palate	OMIM:258865
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Gastroparesis, Obesity, Splen...	OMIM:616368
Curry-Jones Syndrome	Intestinal malrotation, Anal stenosis, Intestinal pseudo-obstruction, Chronic constipation	OMIM:601707
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Basilicata-Akhtar Syndrome	Precocious puberty, Gastroesophageal reflux, Feeding difficulties, Chronic constipation	OMIM:301032
Woolly Hair Nevus	Precocious puberty	ORPHA:79414
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Hepatocellular carcinoma, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the to...	ORPHA:3261
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory tract infection, Feeding difficulties in infancy, Macroglossia, Dysphagi...	ORPHA:365
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Emphysema, Py...	ORPHA:90349
Panbronchiolitis, Diffuse	Bronchiectasis	OMIM:604809
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Juvenile Neuronal Ceroid Lipofuscinosis	Dysphagia, Aspiration pneumonia	ORPHA:79264
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Leigh Syndrome	Severe viral infection, Eczematoid dermatitis, Intrauterine growth retardation, Neutropenia, Anem...	ORPHA:506
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate	ORPHA:2736
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft upper lip, Orofacial cleft, Aplasia of the nose, Absent gallbladder	ORPHA:3186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Seckel Syndrome	Short stature, Intrauterine growth retardation, Cachexia	ORPHA:808
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hypodontia, Hypoh...	OMIM:612132
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Anal stenosis, Recurrent urinary tract infections, Recurrent otiti...	OMIM:251260
Orofaciodigital Syndrome Type 1	Open bite, Ataxia, High palate, Chronic otitis media, Accessory oral frenulum, Choanal atresia, H...	ORPHA:2750
Miller-Dieker Lissencephaly Syndrome	Lissencephaly, Failure to thrive, Pachygyria, Intrauterine growth retardation, Cryptorchidism, Gr...	OMIM:247200
Bainbridge-Ropers Syndrome	Precocious puberty, Vomiting, Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, I...	OMIM:615485
Oculocerebrorenal Syndrome Of Lowe	Gastroesophageal reflux, Recurrent respiratory infections, Atelectasis, Azoospermia, Malabsorptio...	ORPHA:534
Radio-Tartaglia Syndrome	Precocious puberty, High, narrow palate, Gastroesophageal reflux, Obesity, Constipation, Gray mat...	OMIM:619312
Eosinophilic Fasciitis	Myositis, Weight loss, Arthritis, Fasciitis	ORPHA:3165
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Keratoconjunc...	OMIM:158310
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re...	OMIM:619708
Greenberg Dysplasia	Depressed nasal ridge, Depressed nasal bridge, Bone marrow hypocellularity, Hepatosplenomegaly, P...	OMIM:215140
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Weight loss, Dysphagia, Intestinal pseudo-obstruction	OMIM:607459
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, High palate, Hypoventilation, Aspiration pneumonia	ORPHA:314655
Yellow Fever	Vomiting, Diarrhea, Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase conce...	ORPHA:99829
Dyggve-Melchior-Clausen Disease	Severe short stature, Rhizomelia, Failure to thrive, Disproportionate short-trunk short stature, ...	ORPHA:239
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Celiac disease, Iridocyclitis, K...	ORPHA:227990
Huntington Disease-Like 1	Restlessness, Weight loss	ORPHA:157941
Mosaic Trisomy 9	Intestinal malrotation, Cryptorchidism, Asplenia, High palate, Cleft palate, Abnormal liver lobul...	ORPHA:99776
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Psoriasiform dermatitis, Nausea and vomiting, Hashimoto thyroiditis, Consti...	ORPHA:49041
Townes-Brocks Syndrome 2	Bifid uterus, Anal atresia, Rectovaginal fistula, Hypospadias	OMIM:617466
Degcags Syndrome	Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Cryptorchidism, P...	OMIM:619488
Kaposiform Lymphangiomatosis	Epistaxis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, A...	ORPHA:464329
Dyskeratosis Congenita, X-Linked	Oral leukoplakia, Intrauterine growth retardation, Anal mucosal leukoplakia, Short stature, Conju...	OMIM:305000
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Anteriorly placed anus, Recurrent aphthous stomatitis...	ORPHA:728
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence...	ORPHA:124
Meckel Syndrome	Accessory spleen, Depressed nasal ridge, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Crypt...	ORPHA:564
Hyperlipoproteinemia, Type I	Vomiting, Hepatosplenomegaly, Splenomegaly, Episodic abdominal pain, Jaundice, Nausea, Acute panc...	OMIM:238600
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty	OMIM:619356
Wolfram Syndrome	Gastrointestinal hemorrhage, Polydipsia, Abnormal mesentery morphology, Malabsorption, Feeding di...	ORPHA:3463
Cohen Syndrome	Short stature, Intrauterine growth retardation, Delayed puberty, Neutropenia	ORPHA:193
Cornelia De Lange Syndrome 1	High, narrow palate, Pneumonia, Gastroesophageal reflux, Hypoplastic male external genitalia, Int...	OMIM:122470
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Increased body weight, Elevated serum 1...	ORPHA:1501
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic abdominal pain, Adrenal pheochromocytoma, Weight loss, Nausea, Extraadrenal pheochromocy...	ORPHA:276621
Overlap Myositis	Abnormal pulmonary interstitial morphology, Rheumatoid arthritis, Dysphagia, Arthritis	ORPHA:206572
Colchicine Poisoning	Vomiting, Diarrhea, Hypomagnesemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, ...	ORPHA:31824
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen, Stillbirth	OMIM:151210
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Pulmonary fibrosis	ORPHA:79430
Nephronophthisis 13	Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts	OMIM:614377
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Fat malabsorption, Malnutrition, Decreased body weight	ORPHA:96180
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Weight loss, Abdominal mass, Abdominal pain	OMIM:256700
Acute Adrenal Insufficiency	Diarrhea, Failure to thrive, Primary adrenal insufficiency, Nausea and vomiting, Decreased circul...	ORPHA:95409
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Labial hypoplasia, Micropenis, Feeding difficulties	OMIM:620073
Tarp Syndrome	Failure to thrive, Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cl...	ORPHA:2886
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly	ORPHA:280365
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Oeis Complex	Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab...	OMIM:258040
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis, Parathyroid adenoma	OMIM:145980
9P13 Microdeletion Syndrome	Precocious puberty, Recurrent otitis media, External genital hypoplasia, Short stature, High palate	ORPHA:324313
Peters-Plus Syndrome	Anteriorly placed anus, Cleft upper lip, Widely spaced teeth, Long philtrum, Short lingual frenul...	OMIM:261540
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Neutropenia, Recurrent respiratory infections, Recurrent ea...	ORPHA:163956
Dermatomyositis	Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Gastrointestinal stroma tumor, Arthrit...	ORPHA:221
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Celiac disease, Hashimoto thyroi...	ORPHA:227982
Alkaptonuria	Abnormality of the nose, Black pigment gallstones, Methemoglobinemia, Prostatitis, Hypothyroidism...	ORPHA:56
X-Linked Dystonia-Parkinsonism	Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia	ORPHA:53351
Dysbetalipoproteinemia	Obesity, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis	ORPHA:412
Acquired Generalized Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis	ORPHA:79086
Revesz Syndrome	Macrocytic anemia, Intrauterine growth retardation, Aplastic anemia, Neutropenia	OMIM:268130
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia, Gastroesophageal reflux, Postnatal growth retardation, Penile hyp...	ORPHA:73230
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Feeding difficulties, Aplasia of the uterus, Tracheoesophageal f...	OMIM:614083
Acute Monoblastic/Monocytic Leukemia	Weight loss, Central hypothyroidism, Anorexia	ORPHA:514
Geleophysic Dysplasia 1	Wide nasal bridge, Laryngotracheal stenosis, Long philtrum, Tracheal stenosis, Anteverted nares, ...	OMIM:231050
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutr...	ORPHA:228426
Atelosteogenesis Type Ii	Wide nasal base, Long philtrum, Bilateral cleft palate, Thin upper lip vermilion, Protuberant abd...	ORPHA:56304
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Tracheal atresia, Neonatal death	OMIM:601612
Cryptogenic Organizing Pneumonia	Weight loss, Anorexia	ORPHA:1302
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Thyroglossal cyst, Bifid scrotum, Ankyloglossia, Cryptorchidism, ...	ORPHA:2745
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Abnormal mesentery morphology, Cryptorchidism, Constipation, High pal...	ORPHA:2953
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Abnormality of ...	ORPHA:1708
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Growth delay, Eczematoid dermatitis, Neutropenia	OMIM:617799
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts	OMIM:616307
Pemphigus Vulgaris	Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess formation, Feeding diff...	ORPHA:704
Marfan Syndrome	High, narrow palate, Slender build, Attention deficit hyperactivity disorder, Cachexia, Arthralgi...	ORPHA:558
Phocomelia, Schinzel Type	High, narrow palate, Disproportionate short stature, Intrauterine growth retardation, Cryptorchid...	ORPHA:2879
Bardet-Biedl Syndrome 20	Obesity, Elevated circulating hepatic transaminase concentration, Pancreatitis, Bilateral cryptor...	OMIM:619471
Intellectual Developmental Disorder, X-Linked 112	Gastroesophageal reflux, Volvulus, Pyelonephritis, Cryptorchidism, Gastrointestinal dysmotility, ...	OMIM:301111
Orofaciodigital Syndrome I	Wide nasal bridge, Hepatic fibrosis, Carious teeth, Underdeveloped nasal alae, Cleft upper lip, H...	OMIM:311200
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pyloric stenosis	OMIM:618458
Pediatric-Onset Graves Disease	Keratitis, Intrauterine growth retardation, Episcleritis, Splenomegaly, Thrombocytopenia, Neutrop...	ORPHA:525731
Mowat-Wilson Syndrome	Tooth malposition, Broad-based gait, Recurrent otitis media, Open mouth, Cryptorchidism, Prominen...	ORPHA:2152
Intussusception	Intussusception	OMIM:147710
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Hepatosplenomegaly, Anteverted nares, N...	ORPHA:96334
Seckel Syndrome 10	Severe short stature, Elevated circulating luteinizing hormone level, Elevated circulating aspart...	OMIM:617253
Khan-Khan-Katsanis Syndrome	Lymphopenia, Intrauterine growth retardation, Neutropenia, Anemia, Short stature	OMIM:618460
Lipodystrophy, Familial Partial, Type 7	Vomiting, Diarrhea, Failure to thrive, Recurrent pancreatitis, Dysphagia, Small for gestational a...	OMIM:606721
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Underdeveloped nasal alae, Tooth agenesis, Tracheal stenosis, Prominent nose, ...	ORPHA:2637
Rothmund-Thomson Syndrome	Aplastic anemia, Malar rash, Skin rash, Anemia, Neutropenia, Leukemia, Short stature	ORPHA:2909
Spondyloocular Syndrome	Short stature, Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight	OMIM:605822
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Pancreatic fibrosis	OMIM:615503
Fanconi Anemia	Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Azoospermia, Abnormality...	ORPHA:84
Fraser Syndrome	Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Dental malocclusion, Dental crowding, U...	ORPHA:2052
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Sep...	ORPHA:247691
Cystinosis, Nephropathic	Growth delay, Polydipsia, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive...	OMIM:219800
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Menke-Hennekam Syndrome 2	Duodenal ulcer, Chronic constipation	OMIM:618333
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon...	OMIM:149730
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Natal tooth, Long philtrum, Anteverted nares, Protruding tongue, Protuber...	ORPHA:50945
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Mild postnatal growth retardation, Knee osteoarthritis, S...	ORPHA:85408
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Thymic Carcinoma	Weight loss, Hyperhidrosis	ORPHA:99868
Perry Syndrome	Weight loss	ORPHA:178509
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Growth delay, Aspiration pneumonia, Postnatal growt...	ORPHA:1465
Mohr-Tranebjaerg Syndrome	Dysphagia, Aspiration pneumonia	ORPHA:52368
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Aspiration pneumonia, Weight loss, Nasogastric tube feeding in infancy, High p...	ORPHA:2020
Infantile Nephropathic Cystinosis	Vomiting, Failure to thrive, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Co...	ORPHA:411629
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology	OMIM:230800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormality of the dentition, Tooth malposition, Long philtrum, Feeding difficulties, Gingival ov...	ORPHA:480880
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti...	OMIM:619482
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Recurrent otitis media, Micro...	ORPHA:99843
Opsismodysplasia	Depressed nasal bridge, Long philtrum, Anteverted nares, Protuberant abdomen, Short nose	OMIM:258480
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections	OMIM:300291
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Growth delay, Intrauterine growth retardation, Megaloblastic anemia, Thrombocytopenia, Neutropeni...	ORPHA:79282
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Obesity, Abnormality of neuronal migration, Hepatomegaly, Feeding difficulties	ORPHA:163681
Poems Syndrome	Visceromegaly, Increased circulating prolactin concentration, Ascites, Primary adrenal insufficie...	ORPHA:2905
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Aspiration pneumonia	OMIM:619167
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Wide nasal bridge, Hepatic fibrosis, Depressed nasal bridge, Macroglossia, Bifid uvula, Widely sp...	OMIM:266920
Pallister-Hall Syndrome	Precocious puberty, Microglossia, Growth delay, Anteriorly placed anus, Abnormal lung lobation, D...	OMIM:146510
Perry Syndrome	Weight loss, Inappropriate behavior, Disinhibition	OMIM:168605
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Head-banging, Elevated circulating aspartate aminotransfera...	ORPHA:2388
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Hereditary Pheochromocytoma-Paraganglioma	Episodic abdominal pain, Adrenal pheochromocytoma, Weight loss, Nausea, Extraadrenal pheochromocy...	ORPHA:29072
Primary Sjögren Syndrome	Usual interstitial pneumonia, Arteritis, Xerostomia, Bronchitis, Abnormal pulmonary interstitial ...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 25	Short stature, Feeding difficulties, Chronic constipation, Aspiration pneumonia	OMIM:616430
Carpenter Syndrome 1	Precocious puberty, Polysplenia, External genital hypoplasia, Obesity, Cryptorchidism, Short stat...	OMIM:201000
Multiple Myeloma	Functional abnormality of the gastrointestinal tract, Weight loss, Splenomegaly	ORPHA:29073
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar hyperhidrosis, Edema	ORPHA:498359
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Cleft palate	ORPHA:3320
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Broad-based gait, Recurrent otitis media, Open mouth, Cryptorchidism, Chordee,...	ORPHA:261537
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Chromosome 17Q12 Deletion Syndrome	Recurrent urinary tract infections, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia ...	OMIM:614527
Lymphatic Malformation 7	Ascites, Abdominal distention	OMIM:617300
Larsen Syndrome	Depressed nasal bridge, Cleft upper lip, Tracheal stenosis, Cryptorchidism, Hypodontia, Cleft palate	OMIM:150250
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Gastroesophageal reflux, Failure to thrive, Supernumerary nipple,...	ORPHA:397715
Short Syndrome	Severe short stature, Weight loss, Poor appetite	ORPHA:3163
Arteriosclerosis, Severe Juvenile	Short stature, Delayed puberty, Gastric ulcer	OMIM:208060
Marshall-Smith Syndrome	Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, ...	OMIM:602535
Hydrolethalus Syndrome 1	Accessory spleen, Tracheal stenosis, Midline defect of the nose, Median cleft upper lip, Adrenal ...	OMIM:236680
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Tooth malposition, Abnormal dental morphology, Protuberant abdomen, High ...	OMIM:608328
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Growth delay, Anemia, Neutropenia, Leukemia, Short stature	ORPHA:221008
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Neutrophilia, Panniculitis	OMIM:617099
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Cryptorchidism, Hiatus hernia, Constipation, Abnormal duodenum morphology...	OMIM:601776
Meier-Gorlin Syndrome 6	Severe short stature, Gastroesophageal reflux, Emphysema, Delayed puberty, Recurrent respiratory ...	OMIM:616835
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Gastroparesis, Recurrent infections due to aspiration, Constipation, Rec...	ORPHA:70
Tracheal Agenesis	Tracheal atresia	ORPHA:3346
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Short stature, Intrauterine growth retardation, Weight loss, Cryptorchidism	OMIM:301310
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys...	OMIM:608594
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Eosinophilic infiltration of the esopha...	OMIM:614816
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Neonatal hyperbilirubinemia, Aspiration pneumonia, ...	ORPHA:95232
Acquired Central Diabetes Insipidus	Weight loss, Polydipsia	ORPHA:95626
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Recurrent urinary tract infections, Aspiration pneumonia, Malnutrition, Constipation, ...	ORPHA:99027
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss, Pericarditis	ORPHA:75566
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, L...	ORPHA:96191
Hennekam-Beemer Syndrome	Pneumonia, Vomiting, Failure to thrive, Short stature, Abdominal pain, High palate	ORPHA:2135
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Bifid uterus, Supernumerary nipple	ORPHA:1521
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Aspiration pneumonia, Gastrostomy tube f...	ORPHA:845
Alexander Disease	Precocious puberty, Failure to thrive, Nausea and vomiting, Infectious encephalitis, Hypothyroidi...	ORPHA:58
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Abetalipoproteinemia	Hepatic fibrosis, Vomiting, Failure to thrive, Hepatic steatosis, Hepatomegaly, Keratoconjunctivi...	ORPHA:14
Mercury Poisoning	Interstitial pneumonitis, Episodic abdominal pain, Episodic vomiting, Anorexia, Nausea	ORPHA:330021
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Rhizomelia, Disproportionate short-limb short stature, Neutropenia	OMIM:271510
Malt Lymphoma	Posterior uveitis, Nausea and vomiting, Constipation, Weight loss, Hyperhidrosis, Abdominal pain	ORPHA:52417
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Uterine rupture, Emphysema,...	OMIM:130050
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Growth delay, Anemia, Neutropenia, Leukemia, Short stature	ORPHA:221016
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Norrie Disease	Self-injurious behavior, Failure to thrive, Cryptorchidism, Attention deficit hyperactivity disor...	ORPHA:649
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Macroglossia,...	OMIM:130650
Osteosarcoma	Weight loss	ORPHA:668
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Malrotation of small bowel, Gastroesophageal reflux, Growth...	OMIM:194190
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Growth delay	ORPHA:3337
Kabuki Syndrome 1	Recurrent infections, Anal stenosis, Anoperineal fistula, Growth delay, Recurrent otitis media, P...	OMIM:147920
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Intestinal malrotation, Scimitar anomaly, Cryptorchidism, Hepato...	OMIM:618280
Oculopharyngodistal Myopathy 1	High palate, Weight loss, Dysphagia	OMIM:164310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, High, narrow palate, Gastroesophageal reflux, Abnormal lung lobation, Obesity...	ORPHA:369837
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys...	OMIM:269700
Aicardi Syndrome	Precocious puberty, Gastroesophageal reflux, Polymicrogyria, Malabsorption, Intestinal polyposis,...	ORPHA:50
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Narrow palate, Gastroesophageal reflux, Growth delay, Failure to thrive, Recurrent uri...	ORPHA:353281
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Rectovaginal fistula, Anteriorly placed anus	OMIM:608980
Chondrodysplasia Punctata 2, X-Linked Dominant	Concave nasal ridge, Tracheal stenosis, Erythroderma	OMIM:302960
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Diarrhea, Increased circulating...	ORPHA:99889
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Aicardi Syndrome	Precocious puberty, Recurrent pneumonia, Pachygyria, Polymicrogyria, Postnatal growth retardation...	OMIM:304050
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Splenomegaly, Hypothyroidism, Weight loss, Hepatomegaly, Short stature	OMIM:613673
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Broad-based gait, Recurrent otitis media, Open mouth, Cryptorchidism, Chordee,...	ORPHA:261552
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Delayed puberty, Gr...	ORPHA:77261
Multicystic Dysplastic Kidney	Abdominal mass, Enlarged kidney, Cryptorchidism, Abdominal distention	ORPHA:1851
Fontaine Progeroid Syndrome	Small scrotum, Cryptorchidism, Protruding tongue, Neonatal death, Hypoplastic labia majora, Micro...	OMIM:612289
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hepatic steatosi...	ORPHA:64
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Sepsis, Vomiting, Failure to thrive, Recurrent urinary tract infections, Pyoderma, Mal...	ORPHA:79404
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Short stature, Growth delay	OMIM:163200
Heterotaxy, Visceral, 1, X-Linked	Failure to thrive, Abdominal situs inversus, Polysplenia, Posteriorly placed anus, Biliary atresi...	OMIM:306955
Scorpion Envenomation	Vomiting, Diarrhea, Elevated circulating aspartate aminotransferase concentration, Hyperhidrosis,...	ORPHA:466677
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticula, Emphysema, Postnata...	ORPHA:90348
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Diarrhea, Hyperphosphatemia, Vomiting, Elevated circulating creatinine concentration, ...	ORPHA:340
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Downturned corners of mouth, Abdominal situs inversus, Abnormal lip morphology...	ORPHA:280
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Tropical Endomyocardial Fibrosis	Malnutrition, Ascites, Splenomegaly, Cardiomegaly, Cachexia, Hepatomegaly	ORPHA:75565
Fraser Syndrome 1	Abnormal small intestine morphology, Abnormality of the anus, Cryptorchidism, Cleft palate	OMIM:219000
Aspartylglucosaminuria	Neutropenia, Short stature, Vacuolated lymphocytes, Recurrent respiratory infections, Acne	OMIM:208400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Disproportionate short stature, Postnatal growth retardation, Intrauterine gr...	OMIM:210720
Thyrotoxic Periodic Paralysis	Graves disease, Obesity, Constipation, Weight loss, Hyperhidrosis, Hyperthyroidism, Thyrotoxicosi...	ORPHA:79102
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Crypto...	OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Narrow palate, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract inf...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Narrow palate, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract inf...	ORPHA:353277
Kabuki Syndrome	Precocious puberty, Recurrent infections, Failure to thrive, Obesity, Feeding difficulties, Crypt...	ORPHA:2322
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections	OMIM:248500
Proteus Syndrome	Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Cachexia, Testicular neoplasm, Mac...	ORPHA:744
Semilobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroe...	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroe...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroe...	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroe...	ORPHA:93924
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Hepatosplenomegaly, Aplasia of the uterus, Seborrheic dermatitis, Short stat...	OMIM:274000
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Intestinal malrotation, Postnatal growth retardation, Intrauterine growth r...	OMIM:135900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Gastrostomy tube feeding in infancy	ORPHA:457284
Pyomyositis	Myositis, Testicular teratoma, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Hyperhidrosis, Gastric ulcer, Arthritis	OMIM:161700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, Gastroesophageal reflux, Increased ...	ORPHA:438213
Gm1 Gangliosidosis Type 1	Macroglossia, Intrauterine growth retardation, Aspiration pneumonia	ORPHA:79255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Anal stenosis, Rectovestibular fistula, Gastroesophageal reflux, ...	ORPHA:280633
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Recurrent infections, High, narrow palate, Gastroesophageal reflux, Failure t...	OMIM:619950
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pyelonephritis, Hepatic cysts, Reduced sperm motility, Pan...	ORPHA:730
Eisenmenger Syndrome	Bacterial endocarditis, Increased mean corpuscular volume, Ascites, Abnormality of the liver, Iro...	ORPHA:97214
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ...	ORPHA:672
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Disproportionate short-trunk short statu...	OMIM:253200
Neuroleptic Malignant Syndrome	Sepsis, Hyperphosphatemia, Vomiting, Hypomagnesemia, Nasogastric tube feeding, Aspiration pneumon...	ORPHA:94093
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Type I diabetes mellitus, Periodontitis, Proportionate short stature, Growth ...	OMIM:619269
African Trypanosomiasis	Myelitis, Vomiting, Diarrhea, Keratitis, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Opti...	ORPHA:3385
Fraser Syndrome 3	Ascites, Tracheal atresia, Convex nasal ridge, Stillbirth, Wide nose	OMIM:617667
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly	ORPHA:565612
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Neutropenia	OMIM:617248
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Respiratory tract i...	ORPHA:68
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Eczematoid dermatitis, Recurrent urinary tract infections, Decreased response...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Eczematoid dermatitis, Recurrent urinary tract infections, Decreased response...	ORPHA:363958
Restrictive Dermopathy	Choanal atresia, Microcolon, Natal tooth, Aplasia/Hypoplasia involving the nose, Narrow mouth, Su...	ORPHA:1662
Okamoto Syndrome	Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,...	ORPHA:2729
Pyknoachondrogenesis	Depressed nasal ridge, Abnormality of mouth shape, Abdominal distention	ORPHA:3003
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Long penis, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Hypopl...	OMIM:264090
Phakomatosis Pigmentokeratotica	Precocious puberty, Pheochromocytoma, Hypophosphatemic rickets, Cryptorchidism	ORPHA:2874
Alpha-Mannosidosis, Infantile Form	Pneumonia, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopenia, Otitis media, Re...	ORPHA:309282
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Small for gestational age, Bifid scrotum, Cryptorchidism,...	OMIM:107480
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts, Neoplasm of the pancreas	OMIM:193300
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent otitis media, Emphys...	OMIM:245150
Sponastrime Dysplasia	Recurrent pneumonia, Rhizomelia, Disproportionate short-limb short stature, Intrauterine growth r...	ORPHA:93357
Neu-Laxova Syndrome 1	Lissencephaly, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Stillbirth, Bifid...	OMIM:256520
Meier-Gorlin Syndrome 1	Gastroesophageal reflux, Emphysema, Intrauterine growth retardation, Birth length less than 3rd p...	OMIM:224690
Bickerstaff Brainstem Encephalitis	Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis	ORPHA:79138
Ellis Van Creveld Syndrome	Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Neonatal short-limb ...	ORPHA:289
Renal Nutcracker Syndrome	Nausea, Abdominal pain, Weight loss	ORPHA:71273
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone stimulation t...	ORPHA:444077
Familial Thrombocytosis	Hyperhidrosis, Weight loss, Splenomegaly	ORPHA:71493
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Recu...	ORPHA:2273
Atresia Of Urethra	Ascites, Abdominal distention	ORPHA:105
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Disproportionate short-limb short stature, Mild short stature, Protuberant abdomen	OMIM:618019
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections	OMIM:300972
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Von Hippel-Lindau Disease	Polycythemia, Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Hyperhidrosis, Myocarditis...	ORPHA:892
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Weight loss, Lupus nephritis, Arthritis, Anorexia, Cheilitis, Ser...	ORPHA:536
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Short stature	OMIM:301072
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Rhizomelia, Hypospadias	OMIM:615877
Down Syndrome	Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia	OMIM:190685
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Neonatal death, High palate, I...	OMIM:614437
Tuberous Sclerosis 1	Precocious puberty, Hypothyroidism, Pulmonary lymphangiomyomatosis, Adenoma sebaceum	OMIM:191100
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Vomiting, Elevated circulating thyroid-stimulating hormone con...	ORPHA:79318
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hematochezia, Oral cavity telangiectasia, Polycythemia, Tongue telangiectasia, Nasal mucosa telan...	OMIM:600376
Fabry Disease	Emphysema, Achalasia, Delayed puberty, Arthritis, Short stature	ORPHA:324
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Cryptorchidism, Anal atresia, ...	OMIM:606170
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Gastroesophageal reflux, Growth delay, Nasogastric tube feeding, ...	ORPHA:2044
Early Infantile Epileptic Encephalopathy	Precocious puberty, Failure to thrive, Pachygyria, Micropenis, Cleft palate	ORPHA:1934
Neonatal Marfan Syndrome	Emphysema, High, narrow palate	ORPHA:284979
Loeys-Dietz Syndrome	Bifid uvula, High palate, Uterine rupture	ORPHA:60030
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Anal atresia, Hypo...	OMIM:601803
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Scleritis, Weight loss, Anore...	ORPHA:91500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Narrow palate, Disproportionate short stature, Cryptorchidism, Aplasia of the uter...	OMIM:276820
Tuberous Sclerosis 2	Precocious puberty, Hypothyroidism, Pulmonary lymphangiomyomatosis, Adenoma sebaceum	OMIM:613254
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Polysplenia, Supernumerary ...	OMIM:312870
Marfan Syndrome	Narrow palate, Pulmonary artery dilatation, Emphysema, Premature osteoarthritis, Pneumothorax, Hi...	OMIM:154700
Doors Syndrome	Narrow palate, Gastroesophageal reflux, Polymicrogyria, Aspiration pneumonia, Congenital hypothyr...	ORPHA:79500
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hematochezia, Gastrointestinal hemorrhage, Polycythemia, Tongue telangiectasia, Nasal mucosa tela...	OMIM:187300
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Pulmonary artery aneurysm, Periodontitis, Uterine rupture, Gastrointestinal ...	ORPHA:286
Tolchin-Le Caignec Syndrome	Precocious puberty, High palate, Submucous cleft hard palate	OMIM:618971
Neurofibromatosis Type 1	Precocious puberty, Pheochromocytoma, Cryptorchidism, Gastrointestinal stroma tumor, Delayed pube...	ORPHA:636
Hutchinson-Gilford Progeria Syndrome	Ankyloglossia, Delayed menarche, Severe failure to thrive, Weight loss, Osteoarthritis, High palate	ORPHA:740
Yunis-Varon Syndrome	Absent nipple, Growth delay, Pachygyria, Failure to thrive in infancy, Aspiration pneumonia, Intr...	OMIM:216340
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Recurrent Staphylococcus aureus infecti...	ORPHA:642
Niemann-Pick Disease Type C	Hepatic failure, Aspiration pneumonia, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly...	ORPHA:646
17Q11 Microdeletion Syndrome	Precocious puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Intrauterin...	ORPHA:97685
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Goodpasture Syndrome	Weight loss, Glomerulonephritis	OMIM:233450
Sotos Syndrome	Small cell lung carcinoma, Gastroesophageal reflux, Aganglionic megacolon, Pulmonary bleb, Chroni...	ORPHA:821

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cftr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cftr.

No publications found that use IMPC mice or data for Cftr.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cftr^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cftr^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cftr^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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