Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Immunodeficiency With Defective T-Cell Response To Interleukin 1 |
|
Growth delay, Recurrent pneumonia, Recurrent otitis media |
OMIM:243110 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
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, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:616022 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... |
OMIM:266600 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... |
ORPHA:388 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho... |
OMIM:300988 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Resp... |
ORPHA:26790 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Pedal edema, Weight loss, Ascites |
ORPHA:168811 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Short stature, Neutropenia |
ORPHA:90023 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Necroti... |
OMIM:613860 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Cystic Fibrosis |
|
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... |
ORPHA:586 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Parana Hard-Skin Syndrome |
|
Severe postnatal growth retardation, Respiratory insufficiency |
OMIM:260530 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... |
OMIM:219700 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Vomi... |
ORPHA:2869 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... |
OMIM:616373 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int... |
ORPHA:2198 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... |
OMIM:613662 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Short stature, Neutropenia |
OMIM:610798 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... |
OMIM:600803 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... |
ORPHA:69663 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... |
OMIM:616371 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Trehalase Deficiency |
|
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Hepatomegaly, Abdominal colic, Mechanical ileus, Functional intestinal obstr... |
ORPHA:100079 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Test... |
ORPHA:83469 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Secondary Short Bowel Syndrome |
|
Villous atrophy, Vomiting, Abnormal small intestine morphology, Constipation, Primary hypothyroid... |
ORPHA:95427 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Cachexia, Abdominal distention, Splenomegaly, Malnutrition, Es... |
ORPHA:75233 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na... |
OMIM:615214 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... |
OMIM:612444 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Idiopathic Achalasia |
|
Wheezing, Malnutrition, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recurrent aspirat... |
ORPHA:930 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... |
OMIM:193670 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
Ppoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97278 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... |
ORPHA:103907 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasi... |
OMIM:608971 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Dietary Iron Overload Disease |
|
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, E... |
ORPHA:139507 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Abdominal pain, Rectal prolapse, Bili... |
OMIM:175200 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Abdominal pain, Hypothyroidism, Diarr... |
OMIM:226300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eczema, Glomerulonephritis, Severe infection, Chronic diarrhea, Ileus, Hepatitis... |
OMIM:304790 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Vomiting, Co... |
ORPHA:810 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco... |
ORPHA:897 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Abdominal pain, Increa... |
ORPHA:343 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Severe infec... |
ORPHA:2686 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal d... |
ORPHA:314473 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Apnea, Meconium ileus, Feeding difficulties |
OMIM:617239 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... |
OMIM:616740 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... |
ORPHA:100086 |
Grfoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa... |
ORPHA:97261 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... |
OMIM:243150 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis... |
ORPHA:37042 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... |
ORPHA:2930 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Diethylstilbestrol Syndrome |
|
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit... |
ORPHA:1916 |
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 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... |
OMIM:619445 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... |
OMIM:615710 |
Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... |
OMIM:618801 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Short stature, Premature ovarian insufficiency, Increased circulating gonadotropin ... |
ORPHA:243 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency |
OMIM:178550 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Protein-losing enter... |
OMIM:615863 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation |
ORPHA:52503 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, C... |
ORPHA:137686 |
Somatostatinoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97283 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Dyspnea, Ga... |
ORPHA:67 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... |
ORPHA:141152 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict... |
ORPHA:90363 |
Satoyoshi Syndrome |
|
Short stature, Malabsorption, Diarrhea, Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia |
OMIM:162700 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido... |
ORPHA:314652 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag... |
ORPHA:69665 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Acne, Hyperinsulinemia, Increased serum estradiol, Prima... |
OMIM:615363 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... |
OMIM:608184 |
Cystic Disease Of Lung |
|
Multiple pulmonary cysts, Spontaneous neonatal pneumothorax, Recurrent infections |
OMIM:219600 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diar... |
OMIM:614602 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Acne, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased serum ... |
ORPHA:247768 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... |
ORPHA:90038 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophagea... |
ORPHA:2591 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... |
ORPHA:342 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Seckel Syndrome 7 |
|
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... |
OMIM:614851 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Glucagonoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97280 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Abdominal distenti... |
ORPHA:369 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Sever... |
OMIM:617638 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Weight loss, Arth... |
ORPHA:42642 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent upper respiratory tract infections... |
OMIM:600802 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Failure to thrive, Dysphagia |
OMIM:613559 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... |
OMIM:619707 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Liver abscess, Psoriasiform dermatitis, Pneumonia, Allergic r... |
ORPHA:183675 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, T lymphocytopenia, C... |
OMIM:601457 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
Hydatidiform Mole |
|
Nausea and vomiting, Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Sinusitis, Myositis... |
ORPHA:183 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Diarrhea,... |
OMIM:211600 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Intestinal malrotation, Abnormal sperm motility, Female infert... |
ORPHA:244 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Ascites, Protein-losin... |
OMIM:608104 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Abdominal pain, Asthma, Weight loss |
ORPHA:449400 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... |
ORPHA:93941 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... |
OMIM:613193 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchi... |
OMIM:300219 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Portal hypertension, Pulmonary embo... |
ORPHA:774 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... |
OMIM:175500 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Jaundice, R... |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy,... |
OMIM:602579 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obli... |
OMIM:615518 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... |
OMIM:613493 |
Lipoid Proteinosis |
|
Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thic... |
ORPHA:530 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Recurrent pneumonia, Feeding difficulties, R... |
OMIM:613327 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... |
ORPHA:727 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropic hormone excess, Exertional ... |
ORPHA:100083 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Ascites, Abnorm... |
ORPHA:314478 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... |
OMIM:614935 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Secondary amenorrhea, Polycyst... |
ORPHA:1643 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... |
OMIM:603041 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Edema, Minimal change glomerulonephritis, Periorbital edema, Abdominal pain, Peritonitis, Hypoalb... |
ORPHA:656 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Acne, Infertility, Oligomenorrhea |
OMIM:604931 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Edema, Minimal change glomerulonephritis, Periorbital edema, Abdominal pain... |
ORPHA:567548 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:66628 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Respiratory paralysis, Vomiting, Constipation, Hepatoc... |
OMIM:176000 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Cough, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Whe... |
OMIM:613490 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumon... |
ORPHA:781 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Edema, Abdominal distention, Diarrhea, Peritonitis, Bloo... |
ORPHA:391673 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... |
OMIM:615285 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... |
OMIM:619351 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, H... |
ORPHA:100025 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... |
ORPHA:913 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... |
ORPHA:229717 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:179494 |
Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... |
ORPHA:785 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Abdominal pain |
OMIM:134610 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... |
OMIM:300310 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Castleman Disease |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Abdominal... |
ORPHA:160 |
Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Decreased serum leptin, Recurrent upper respiratory tract infections, R... |
OMIM:614962 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... |
OMIM:240300 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Mening... |
ORPHA:464370 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... |
ORPHA:77297 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Recurrent respiratory infections, Intestinal obstruction, Hypoplasia of penis... |
ORPHA:2323 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Aphthous ulcer, Diarrhea, Per... |
OMIM:249100 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... |
ORPHA:90003 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Asthma, Chronic ... |
OMIM:601675 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting, Failure to... |
OMIM:300352 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala... |
ORPHA:3452 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurr... |
OMIM:301082 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... |
OMIM:616037 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... |
OMIM:616414 |
Riddle Syndrome |
|
Short stature, Pulmonary fibrosis |
OMIM:611943 |
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 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... |
OMIM:607626 |
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 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cleft lip, Obesity, Cleft palate, Hepatosplenomegaly, Chronic constipation, Everted... |
OMIM:301066 |
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 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Splenomegaly, Secretory diarrhea, En... |
OMIM:616050 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Athyreosis |
|
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipati... |
ORPHA:95713 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Immunodeficiency 77 |
|
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... |
OMIM:619223 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Recurrent bac... |
OMIM:601495 |
Listeriosis |
|
Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephal... |
ORPHA:533 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla... |
OMIM:619126 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Growth delay, Fat malabsorption, V... |
ORPHA:71 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,... |
ORPHA:2902 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Inappropriate laughter, Dysph... |
ORPHA:85278 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Failure to thrive, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia |
ORPHA:254930 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... |
OMIM:246700 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intesti... |
ORPHA:1333 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... |
OMIM:615387 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Protein-losing enteropathy |
OMIM:619063 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... |
OMIM:612692 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... |
ORPHA:98826 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... |
OMIM:301078 |
Porphyria Variegata |
|
Abdominal pain, Ileus, Abnormality of the liver, Respiratory paralysis, Constipation, Hepatocellu... |
ORPHA:79473 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abdominal pain, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis,... |
ORPHA:438274 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... |
OMIM:300048 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ileus, High palate |
OMIM:620156 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Pai Syndrome |
|
Nasal polyposis, Median cleft lip, Depressed nasal bridge, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to... |
OMIM:612075 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Gout, Recurrent infections, Neutropenia, Intrauterine growth retardation, Anemia |
OMIM:617056 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... |
OMIM:155310 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Recurrent respiratory infections, Neutropenia |
ORPHA:2643 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... |
OMIM:240500 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Thyroid Hemiagenesis |
|
Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation |
ORPHA:95719 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive |
ORPHA:33355 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... |
OMIM:154230 |
Metachromatic Leukodystrophy |
|
Ataxia, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal ga... |
ORPHA:512 |
Perlman Syndrome |
|
Hepatomegaly, Anteverted nares, High, narrow palate, Cryptorchidism, Short nose, Abnormal pancrea... |
ORPHA:2849 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... |
OMIM:606528 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Decreased DLCO, Gastroesophageal reflux, Pulmonary fibrosis, Cough, Reticular ... |
OMIM:614742 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased... |
ORPHA:169154 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Growth delay, Restrictive ventilatory defect, Pulmonary fibrosis, Delayed puberty, Erysipelas |
OMIM:615704 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Diarrhea, Hepatic fibrosis... |
ORPHA:79319 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatit... |
ORPHA:169160 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, W... |
ORPHA:50251 |
Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Small for gestational age, Abdominal distention, Pyloric stenosis,... |
OMIM:256300 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w... |
ORPHA:64744 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Nonproductive cough, Lymphadenitis, Sepsis, Vomiti... |
ORPHA:31204 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Respiratory insufficiency, Dysphagia |
OMIM:618230 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Portal hypertens... |
OMIM:610199 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... |
ORPHA:1198 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Meningitis, Paralytic ileus, Respir... |
ORPHA:2912 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... |
OMIM:613807 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder |
ORPHA:309271 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Thromb... |
ORPHA:47 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste... |
ORPHA:226313 |
Riboflavin Transporter Deficiency |
|
Cachexia, Aggressive behavior, Respiratory insufficiency, Dysphagia |
ORPHA:97229 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... |
ORPHA:480520 |
Rett Syndrome |
|
Failure to thrive, Abnormal pattern of respiration, Cholecystitis |
ORPHA:778 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, High, narrow palate, Wide ... |
ORPHA:3166 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... |
ORPHA:75564 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Cough, Chronic ot... |
ORPHA:900 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Respir... |
ORPHA:79327 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... |
OMIM:215520 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity |
OMIM:103200 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici... |
ORPHA:79276 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Renpenning Syndrome |
|
Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic... |
ORPHA:3242 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pancreatitis, J... |
ORPHA:521219 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Cleft palate, Cleft upper lip |
OMIM:611561 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... |
ORPHA:3440 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... |
OMIM:229050 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... |
ORPHA:210136 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... |
ORPHA:398063 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abdominal pain, Abnorma... |
ORPHA:449395 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Vom... |
OMIM:619991 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cou... |
ORPHA:228119 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Gastropares... |
ORPHA:85443 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Jaundice, Diarrhea, He... |
ORPHA:2331 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Short stature, Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormality of the liver, Abnormal parotid gland morpholog... |
ORPHA:252164 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Thrombocytopenia, Sepsis, Growth delay, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Short stature, Eczema, Abdominal pain, Celiac disease, Abdominal d... |
OMIM:212750 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss, Gro... |
ORPHA:79238 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Recurrent pharyngitis, Fulminant... |
OMIM:308240 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Eczema, Recurrent skin infections, Postnatal growth r... |
OMIM:617827 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi... |
OMIM:307200 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Tenesmus, Hematochezia, Chronic constipation, Epis... |
ORPHA:209964 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Postnatal growth retardation, Celiac disease, Thyroiditis, Recurrent infec... |
OMIM:618985 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Short stature, Pneumonia, Eczema, Splenomeg... |
OMIM:607271 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Tetrasomy 12P |
|
Short stature, Cachexia, Abnormal soft palate morphology, Hypohidrosis, Anal atresia |
ORPHA:884 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... |
OMIM:620197 |
Qazi-Markouizos Syndrome |
|
Prominent nasal bridge, High, narrow palate, Abdominal distention, Cryptorchidism, Hypoplasia of ... |
ORPHA:3010 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte... |
OMIM:300400 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Gaisböck Syndrome |
|
Peptic ulcer, Overweight, Splenomegaly, Dyspnea, Obesity, Gout, Cholecystitis |
ORPHA:90041 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... |
OMIM:278000 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... |
OMIM:619057 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... |
OMIM:606763 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pain, Chronic di... |
ORPHA:90362 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... |
OMIM:618394 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Anosmia, Bronch... |
OMIM:244400 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Increased ... |
OMIM:618982 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymp... |
OMIM:235255 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... |
ORPHA:822 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... |
OMIM:300755 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... |
ORPHA:436159 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... |
ORPHA:436252 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Hematochezia, Cholestatic liver dise... |
ORPHA:79095 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Prostatiti... |
ORPHA:449432 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea |
ORPHA:254361 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia |
ORPHA:220402 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Netherton Syndrome |
|
Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Chronic rhinitis, ... |
OMIM:256500 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Myotonic Dystrophy 1 |
|
Feeding difficulties in infancy, Hypogonadism, Dysphagia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Cleft palate, Cystic liver disease, Bile duct proliferation,... |
OMIM:612284 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, A... |
ORPHA:100924 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... |
OMIM:619281 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Esophageal varix, Bi... |
OMIM:215600 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... |
ORPHA:2410 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Chronic oral candidiasis, Osteomyelitis, Eczema, Recurrent respira... |
OMIM:614162 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia |
OMIM:300752 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Respiratory distress, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, ... |
ORPHA:79312 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Short stature, Constipation, Gastroesophageal ref... |
OMIM:312750 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... |
OMIM:610852 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:158330 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Abdominal pain, Epididy... |
ORPHA:99827 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
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 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Gastroesophageal reflux, High palate, Vomiting, Cough, Emphysema, Hepatic steatosis, P... |
OMIM:613658 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski... |
ORPHA:276 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Narrow palate, Respiratory insufficiency, Respiratory failure, High palate, Gastroesoph... |
OMIM:618186 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... |
OMIM:232700 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Cholecystitis |
ORPHA:309256 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Feeding difficulties, Respiratory failu... |
OMIM:618329 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Abdominal pain, Hepatosplenomegaly,... |
ORPHA:275761 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Feeding difficulties in infancy, Pustule, Glucocortocoid-insensitive primary hyper... |
ORPHA:171876 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Hyperhidrosis, Decreased body weight, Recurrent i... |
ORPHA:51890 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth retardation, Cryptorchidi... |
ORPHA:813 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Short stature, Dyspnea, Abnormal pulmonary interstitial morphol... |
OMIM:607616 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Vomiting... |
OMIM:619510 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... |
OMIM:619705 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency, Feeding difficulties |
ORPHA:157973 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Hypercholesterole... |
ORPHA:96184 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Skin rash, Cough, Myocarditis, Xerostomia, Abnormal p... |
ORPHA:81 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... |
OMIM:242700 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Tracheoesophageal fistula, St... |
ORPHA:142 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Abdominal pain |
OMIM:118830 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Respiratory distress, El... |
ORPHA:537 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Thin upper lip vermilion, Broad nasal tip, Abdominal distention, Cryptorchidism, Pa... |
ORPHA:1655 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Short stature, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurre... |
OMIM:618935 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Eczema, Hemolytic anemia |
OMIM:177000 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Failure to thrive, Splenomegaly... |
OMIM:276700 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Short stature, Bronchiectasis, Recurrent infections... |
ORPHA:477814 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala... |
OMIM:617063 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, Gastroesophageal reflux, High palate, Widely spaced... |
OMIM:618268 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Short... |
OMIM:615139 |
Dextrocardia |
|
Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hyp... |
ORPHA:1666 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Br... |
OMIM:620233 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Cholecystitis |
ORPHA:309263 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Chronic rhinitis, Immotile sperm, Absent respiratory ciliary axoneme ... |
OMIM:242670 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Short stature, Neutropenia |
OMIM:618752 |
Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... |
OMIM:618063 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Thyroid Hypoplasia |
|
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Hypothyr... |
ORPHA:95720 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... |
ORPHA:99931 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Diarrh... |
ORPHA:79076 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention, Polycystic liver disease, Ascites |
OMIM:174050 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Gonadoblastoma |
|
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... |
ORPHA:206484 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation |
OMIM:610688 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Short-segment aganglionic megacolon, Portal hypertension, Cryptorchidism, ... |
OMIM:609136 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Growth delay, Short stature, Bronchiectasis |
OMIM:616632 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo... |
OMIM:616222 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Vomiting, Decrease... |
ORPHA:42 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal pain, Dyspnea, Abdominal distention, Pleural effusion |
ORPHA:48686 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Prema... |
ORPHA:3464 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... |
ORPHA:1839 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... |
OMIM:620321 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... |
OMIM:618108 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive, Respiratory insufficiency, Malabsorption |
ORPHA:1954 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int... |
OMIM:615952 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Keratoconjunctivitis s... |
ORPHA:309031 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Diencephalic Syndrome |
|
Hyperhidrosis, Cachexia, Decreased body weight |
ORPHA:1672 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Episodic... |
ORPHA:251992 |
Pancreatitis, Hereditary |
|
Abdominal pain, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatic ca... |
OMIM:167800 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Neutropenia, ... |
ORPHA:88 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Prominent nasal bridge, Diastema, Cryptorchidism, Recurrent upper respi... |
OMIM:300534 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... |
OMIM:601847 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections... |
OMIM:616005 |
Alg6-Cdg |
|
Jaundice, Feeding difficulties, Macroglossia, Abnormality of the liver, Protein-losing enteropath... |
ORPHA:79320 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Cleft palate |
OMIM:611134 |
Cach Syndrome |
|
Hepatosplenomegaly, Feeding difficulties, Growth delay, Vomiting, Optic neuritis, Dysphagia, Intr... |
ORPHA:135 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Macroglossia, Arthritis, Abnormal int... |
ORPHA:85446 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Short stature, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Abdominal distention, Ga... |
ORPHA:90051 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Anteverted nares, Elevated circulating aspartate aminotr... |
OMIM:618528 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Obesity, Pineal cyst, Cholecys... |
ORPHA:98908 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Pelvic mass, Anorexia, Abdominal distention, Jaund... |
ORPHA:370348 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Vomiting, Cirrhosis, Cough,... |
ORPHA:1546 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... |
ORPHA:98897 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Depressed nasal bridge, Cryptorchidism, Wide mouth, Gait disturbance, Protub... |
ORPHA:457485 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Anorexia, Dyspnea, Iridocyclitis, Splenomegaly, Enlarged lacrimal glands, Bronchiec... |
OMIM:181000 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Short stature, Adrenal hypoplasia |
OMIM:619151 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Intrauteri... |
OMIM:617914 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Short stature, Abnormality of thyroid physiology, Minimal change glome... |
ORPHA:1830 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss |
ORPHA:86893 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... |
ORPHA:247585 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi... |
OMIM:147060 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... |
ORPHA:90060 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Respiratory insufficiency, Duodenal stenosis |
ORPHA:1759 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Lynch Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal polyposis... |
ORPHA:144 |
Mirage Syndrome |
|
Adrenal hypoplasia, Sepsis, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Achalasi... |
OMIM:617053 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Poor appetite, Severe varicella zoster infection, Uveitis, Gastroes... |
ORPHA:125 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Pure red c... |
OMIM:613179 |
Renal Agenesis |
|
Absent vas deferens, Pulmonary hypoplasia, Anal atresia, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, ... |
ORPHA:2298 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Oral ulcer, Uveitis, Granulomatosis, Concave nasal ridge, Con... |
OMIM:608710 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Neoplas... |
ORPHA:158057 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... |
ORPHA:158048 |
Acrodermatitis Enteropathica |
|
Short stature, Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furr... |
ORPHA:37 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Feeding difficulties, Protein-losing enteropathy, Spontaneous pneumothorax |
OMIM:618154 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Chronic diarrhea, Elevated circulating alanine aminot... |
OMIM:618805 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, ... |
ORPHA:797 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ... |
ORPHA:83617 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Elevated hepatic transam... |
ORPHA:36426 |
Braddock Syndrome |
|
Neonatal respiratory distress, Short stature, Pulmonary arterial hypertension, Pulmonary fibrosis... |
ORPHA:52047 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Eosinophilia, Erythema nodosum, Abnormality of... |
ORPHA:228123 |
Chronic Hiccup |
|
Malnutrition, Abnormal eating behavior, Weight loss |
ORPHA:396 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation, Intrauterine growth r... |
OMIM:616801 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocy... |
ORPHA:292 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Portal hypertensi... |
ORPHA:98850 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... |
OMIM:264300 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Feeding difficulties in infancy, Sple... |
OMIM:261515 |
Vipoma |
|
Poor appetite, Anorexia, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... |
ORPHA:97282 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Failure to thrive, Pancreatic fibro... |
OMIM:557000 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... |
OMIM:606367 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100082 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c... |
OMIM:620282 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret... |
OMIM:609981 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia, Intrauterine... |
OMIM:618253 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Poor appetite, Malab... |
OMIM:227810 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombocytopenia, Pulmonary h... |
OMIM:603585 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Neonatal death... |
OMIM:609313 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Abdominal pain, Cardiomegaly, Splenomegaly, Jaundice, Splenic inf... |
OMIM:603903 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated circulating ala... |
OMIM:619386 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... |
ORPHA:103918 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... |
ORPHA:572333 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ... |
ORPHA:254531 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominent nose, Wide nasal bridge, Cholelithiasis, Hepatic failure... |
OMIM:614886 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic... |
OMIM:214900 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100080 |
Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Feeding difficulties, Hypogonadism, Chole... |
OMIM:619273 |
Propionic Acidemia |
|
Hepatomegaly, Apnea, Short stature, Poor appetite, Eczema, Feeding difficulties in infancy, Tachy... |
OMIM:606054 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Narrow mouth, Abnorm... |
OMIM:222470 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Prominent nasal tip, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, High,... |
ORPHA:464738 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal distention, Jaund... |
ORPHA:186 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:605479 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Hyperhi... |
ORPHA:1332 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... |
ORPHA:440437 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... |
ORPHA:234 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Abdominal d... |
ORPHA:2604 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt... |
ORPHA:3392 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Colitis, ... |
ORPHA:3260 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Sialuria |
|
Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Wide nasal bridge, Macroglossia, High palat... |
OMIM:269921 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hepatitis, Sepsis, Chronic hepatit... |
OMIM:308230 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short stature, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injuriou... |
ORPHA:371364 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, De... |
OMIM:232220 |
Immunodeficiency 12 |
|
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... |
OMIM:615468 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... |
OMIM:620326 |
Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:616433 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... |
OMIM:256810 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Weight loss, Vomiting, Pancreatic calci... |
ORPHA:677 |
Donohue Syndrome |
|
Postnatal growth retardation, Abdominal distention, Cholestasis, Ovarian cyst, Hepatic fibrosis, ... |
OMIM:246200 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Thin upper lip vermilion, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal live... |
ORPHA:456312 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Intestinal pseudo-obstruction, Decreased body weight |
OMIM:616201 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Cough, Dyspnea, Esophageal neoplasm, Keratitis, ... |
ORPHA:1018 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Pericardi... |
OMIM:212065 |
Acute Transverse Myelitis |
|
Invasive parasitic infection, Gastroparesis, Severe viral infection, Paralytic ileus, Disseminate... |
ORPHA:139417 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Le... |
OMIM:619652 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Abdominal distention, Depressed nasal ridge, Cleft palate, Short nose, Enlarged ... |
OMIM:613885 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Growth delay, Intrauterine ... |
ORPHA:217346 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
Distal Duplication 5Q |
|
Eczema, Prominent nasal bridge, Carious teeth, Cryptorchidism, Thin vermilion border, Aplasia/Hyp... |
ORPHA:96097 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... |
OMIM:602782 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Failure to t... |
OMIM:203700 |
Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia... |
ORPHA:90790 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Abdominal ... |
ORPHA:3202 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... |
ORPHA:143 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Feeding difficulties, Apneic episodes in infancy, Dysphagia, Meckel diverticu... |
ORPHA:163961 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Respiratory insufficiency, Weight loss, Neopl... |
ORPHA:69077 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Poikiloderma With Neutropenia |
|
Short stature, Skin rash, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumoni... |
OMIM:604173 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Growth delay, Vomiting, Polydipsia |
ORPHA:30925 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98754 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Elevated circulatin... |
OMIM:619573 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... |
ORPHA:79303 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Gastritis, Skin rash, Dyspnea, Myocarditis, ... |
ORPHA:809 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Agenesis of pulmonary vessels, Alveolar capi... |
OMIM:601186 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Restrictive ventilatory defect, Oral leukoplakia, Pulmonary fibrosis |
OMIM:619767 |
Behçet Disease |
|
Myositis, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abdominal pain, Retrobulba... |
ORPHA:117 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... |
OMIM:266810 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
Yao Syndrome |
|
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Asthma, Diarrhea, ... |
OMIM:617321 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Dyspnea, Xerostomia, Arthritis, Gastroesophageal reflux, Pulmonary fibrosis, Dysph... |
ORPHA:220393 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Cardiorespiratory arrest, Weight loss, Cough... |
ORPHA:188 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis |
OMIM:613496 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... |
ORPHA:288 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Increased circulating free T4 concentration, Abnormal abdomen morphology, Increase... |
OMIM:275000 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Short stature, Pneumonia, Malabsorption, Protruding tongue, Bronchiectasis, Macrogloss... |
OMIM:242860 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Oral ulcer, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Ab... |
OMIM:619381 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine ki... |
ORPHA:79240 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98793 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Exocrine pancreatic insufficiency, Biliary atresia, Feeding difficulties,... |
ORPHA:2255 |
Feingold Syndrome |
|
Anteverted nares, Depressed nasal bridge, Esophageal atresia, Abnormality of the spleen, Orofacia... |
ORPHA:1305 |
Hermansky-Pudlak Syndrome 4 |
|
Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect |
OMIM:614073 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Short stature, Abdominal distention, Arthritis, Septic arthritis, Fa... |
OMIM:619423 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Pneumothora... |
ORPHA:411703 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177904 |
Bohring-Opitz Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cardiomegaly, Feeding difficulties in infancy, Cleft li... |
ORPHA:97297 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight... |
ORPHA:33276 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A... |
ORPHA:2088 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Abdominal pain, Abdominal distention, Irregular m... |
ORPHA:180229 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177901 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, An... |
OMIM:246400 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Cough, Splenomegaly, Feeding difficulties, Stridor, Gastroesophageal reflux,... |
OMIM:230900 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic pulm... |
OMIM:618131 |
Bone Marrow Failure Syndrome 5 |
|
Growth delay, Short stature, Oral leukoplakia, Pulmonary fibrosis |
OMIM:618165 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... |
ORPHA:75234 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Recurrent infections, Intestinal pseudo-obstruction, Dysphagia |
OMIM:619780 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... |
ORPHA:264580 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... |
ORPHA:93552 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili... |
OMIM:613610 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... |
OMIM:616100 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla... |
ORPHA:37202 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen... |
OMIM:612714 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Short stature, Cachexia, Aggressive behavior, Obesity, Hyperhidrosis, High palate,... |
ORPHA:85293 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Weight los... |
ORPHA:79078 |
Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, External genital hypoplasia, Pneumonia, Cryptorchidism, Growth delay, Decreased te... |
ORPHA:1867 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Malrotation of small bowel, Recurrent u... |
ORPHA:264450 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Bifid uvula, Vaginal atresia |
OMIM:616258 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Splenomegaly, Bloody diarrhe... |
ORPHA:84064 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Growth delay, Hyperald... |
OMIM:214700 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepato... |
ORPHA:50918 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Colitis, Abnormal pulmonary interstitial morphology, Recurrent upper respira... |
OMIM:613101 |
Lead Poisoning |
|
Small for gestational age, Skin rash, Anorexia, Abdominal pain, Abdominal distention, Asthma, Abn... |
ORPHA:330015 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide nasal... |
ORPHA:96092 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Respiratory insufficiency, Weight... |
ORPHA:391 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal pulmonary interstitial morphology, Respirator... |
ORPHA:732 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed ... |
OMIM:309801 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pulmonary fibrosis |
OMIM:614743 |
Cerebrotendinous Xanthomatosis |
|
Ataxia, Diarrhea, Pseudobulbar paralysis, Difficulty walking, Cholelithiasis |
OMIM:213700 |
Infantile Krabbe Disease |
|
Respiratory distress, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Respir... |
ORPHA:206436 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... |
ORPHA:567 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, BCGosis, Recurre... |
OMIM:619644 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Respiratory insufficie... |
OMIM:208500 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal pulmonary interst... |
OMIM:617180 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Neonatal short-limb short stature, Respiratory insufficiency |
OMIM:600972 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Bowel urgency, Poor appetite, A... |
ORPHA:100075 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... |
OMIM:613070 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Orchitis, Keratitis, Retroperitoneal fibrosis, Abnormality of the anterio... |
ORPHA:449563 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Chronic infection, Leukoc... |
ORPHA:520 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
High palate, Pulmonary fibrosis, Short stature |
ORPHA:457240 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic steatosis, Hepatomega... |
ORPHA:79259 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Pyloric stenosis, Abnormality of exocrine pancreas physiology, ... |
ORPHA:93111 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Secreto... |
OMIM:618183 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone... |
OMIM:619525 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia, R... |
OMIM:302060 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Riddle Syndrome |
|
Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ... |
ORPHA:420741 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal v... |
ORPHA:2072 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephro... |
OMIM:618999 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:145981 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepatic cholestasis, Hematochezia, Pr... |
OMIM:214950 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation |
ORPHA:1133 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Weight loss, Hyperhidrosis, Arthritis, Gastrointestina... |
ORPHA:3287 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... |
ORPHA:70578 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, Optic neuritis, B ... |
OMIM:301081 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomeg... |
OMIM:277900 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... |
OMIM:137920 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Short stature, Cachexia, Abnormal large intestine morphology, Narrow palate... |
ORPHA:109 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal reflux, Intrauterin... |
OMIM:620275 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... |
ORPHA:324964 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Anorexia, Cachexia, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Abnormality of the gastrointestinal tract, Apnea, Anorexia, Oral-pharyngeal... |
ORPHA:2131 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Dyspnea, Retrobulbar optic neuritis, Erythema nodosum, Xerost... |
ORPHA:90340 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... |
ORPHA:100078 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Mody |
|
Elevated hemoglobin A1c, Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insuf... |
ORPHA:552 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter |
OMIM:617577 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence, Respiratory insufficiency |
ORPHA:702 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... |
ORPHA:98813 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Rhizomelia, Submucous cleft hard palate, Disprop... |
OMIM:222765 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... |
ORPHA:733 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... |
ORPHA:293173 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... |
OMIM:615866 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... |
OMIM:608233 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Episodic... |
ORPHA:444490 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... |
ORPHA:391487 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Orofaciodigital Syndrome Viii |
|
Short stature, High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Abnormal intestine morphology, Failure to thrive, H... |
ORPHA:977 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention, Broad-based gait, Ataxia, Difficulty walking |
ORPHA:79097 |
Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, My... |
ORPHA:549 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... |
OMIM:618523 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Delayed puberty, Gout, Growth delay, ... |
OMIM:232200 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Supernumerary nipple, Precocious puberty, Cryptorchidism, Recurrent otitis media, Anal atresia |
OMIM:619243 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Recurrent skin infections, Abdominal distention, Urinary bladder inflammatio... |
ORPHA:79403 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Feeding difficulties, Growth delay, Gonadal dysgenesis, Hypog... |
ORPHA:3306 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Small for gestational age, Dysmenorrhea, Hypospadias, Postnatal growth retardation... |
ORPHA:397590 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas... |
ORPHA:538 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Short stature, Abdominal distention, Disproportionate short-trunk short sta... |
OMIM:277300 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoper... |
OMIM:615607 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Depressed nasal bridge, Elevated circulating alanine aminotransferase concent... |
OMIM:618500 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Urachal Cyst |
|
Peritonitis, Elevated circulating C-reactive protein concentration, Abdominal pain |
ORPHA:488 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... |
ORPHA:98905 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Growth delay, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Throm... |
OMIM:614857 |
Prolactinoma |
|
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed... |
ORPHA:2965 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormality of the menstrual cycle |
ORPHA:721 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocy... |
ORPHA:508542 |
Thyroid Ectopia |
|
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Ectopic ... |
ORPHA:95712 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Prim... |
ORPHA:65681 |
Trisomy 10P |
|
Absent gallbladder, Anteverted nares, Depressed nasal bridge, Abnormality of the nose, Orofacial ... |
ORPHA:171929 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Ovarian cyst, Menorrhagia, Epistaxis |
ORPHA:327 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Thrombocytopenia, Splenomegaly, Abnormal natural killer cell cou... |
ORPHA:158061 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Abdominal distention, Rectal atresi... |
OMIM:617666 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Abnormal external nose morphology, High palate, Solitary median maxillary cen... |
ORPHA:556955 |
Achondrogenesis Type 1A |
|
Abdominal distention, Short nose, Anteverted nares, Long philtrum |
ORPHA:93299 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, D... |
OMIM:131100 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... |
ORPHA:99880 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Short stature, Cachexia, Chronic diarrhea, Recurrent pneumonia, Anorectal anomaly,... |
ORPHA:647 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Dyspnea, Meningitis, Emphysema, Uveitis, Restrictive ventilatory defect,... |
ORPHA:36412 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Abdomina... |
ORPHA:199299 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... |
ORPHA:60025 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Recurrent infections, Growth delay, Increased mean corpuscular volume, Esophag... |
OMIM:612562 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis |
OMIM:611926 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Hijazi-Reis Syndrome |
|
Recurrent respiratory infections, Recurrent ear infections, Postnatal growth retardation, Chronic... |
OMIM:301094 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Intestinal malrotation, Biliary atresia, Colon perforation, Pancreatic hypopl... |
OMIM:600001 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Dysphagia, Delayed menarche, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Recurrent pneumonia, Recurrent infections, Growth delay, Leukop... |
OMIM:616271 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reye syndrome-like episodes, Dys... |
ORPHA:26791 |
Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s... |
ORPHA:273 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... |
ORPHA:398124 |
Lathosterolosis |
|
Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Increased mean platelet vo... |
OMIM:607330 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Bowel urgency, Poor appetite, Anorexia, Nonproductive cough, Dyspnea, As... |
ORPHA:97287 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Recurrent infections, Growth delay, Neutropenia, Stomatitis, Int... |
ORPHA:79284 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Tubulointerstitial nephritis, Vomiting, Failure to thrive, Pa... |
OMIM:251000 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Vomiting, Leydig cell neoplasia, Hyponatremia, Im... |
ORPHA:361 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Hepatic cysts, Asthma, Diarrhea, Wide mo... |
ORPHA:79328 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis |
ORPHA:60 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Feeding difficulties in infancy, Cholelithiasis, Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Cough, Aspiration pneumonia |
ORPHA:216866 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Accessory spleen, Intestinal malrotation,... |
OMIM:249000 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion... |
ORPHA:101096 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Feeding diffic... |
ORPHA:254525 |
Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Hematochezia, Restrictive ventilatory defect, Inflammation of the large intestine, Col... |
OMIM:203300 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Fatal Familial Insomnia |
|
Apnea, Hyperhidrosis, Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... |
ORPHA:29207 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... |
ORPHA:2796 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t... |
ORPHA:96179 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abdominal symptom, H... |
ORPHA:400 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Dyspnea, Thrombocytopenia, Disproportionate short-trunk short stature, Recurrent in... |
OMIM:242900 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficulties, Recurrent ... |
OMIM:616395 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis |
ORPHA:210548 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Abdominal distention, Rectal prolap... |
ORPHA:508 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of to... |
OMIM:617925 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope... |
OMIM:607944 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Decreased nasal nitric oxide, Polysplenia, Chronic otitis media, Chronic ... |
OMIM:619608 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Pustule, Tachypnea, Pulmonary fibrosis, Pu... |
OMIM:615934 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Short ... |
OMIM:260400 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Rhizomelia, Diarrhea, Respiratory insufficiency, Weight loss, ... |
ORPHA:1842 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Respiratory distress, Eczema, Anorexia, Tachypnea, Weight loss, Growth delay... |
ORPHA:79242 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Elevated circulating growth hormone concentr... |
ORPHA:300373 |
Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Cachexia |
ORPHA:2047 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... |
OMIM:619487 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, Increased fecal coproporph... |
OMIM:263700 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Supernumerary nipple, Cleft upp... |
OMIM:605039 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... |
ORPHA:1959 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Choanal atresia, Underdeveloped nasal alae, Cryptor... |
ORPHA:163979 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... |
ORPHA:48435 |
Erythrokeratodermia Variabilis |
|
Skin rash, Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Choanal atresia, Cryptorchidism, Cleft palate, Shor... |
OMIM:300712 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Abdominal pain |
ORPHA:654 |
Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Growth ... |
ORPHA:3380 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Abdominal pain |
ORPHA:767 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Abnormal pulmonary interstitial morphology, Co... |
ORPHA:99745 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,... |
ORPHA:1572 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... |
ORPHA:330001 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis |
OMIM:612852 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Chronic diarrhea, Recurrent... |
ORPHA:333 |
Triploidy |
|
Hepatomegaly, Intestinal malrotation, Cryptorchidism, Abnormality of the pancreas, Abnormality of... |
ORPHA:3376 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Abdominal pain |
OMIM:619290 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Hemopha... |
ORPHA:540 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Dyspnea, Diarrhea, Pancreatitis, Secretory dia... |
ORPHA:544482 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse ... |
ORPHA:424 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Pancreatitis, Respiratory insufficiency |
ORPHA:27 |
Zttk Syndrome |
|
Absent gallbladder, Depressed nasal bridge, Abnormality of the dentition, Feeding difficulties in... |
OMIM:617140 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Small for gestational age, Short stature, Elevated circulating luteinizing horm... |
OMIM:618419 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Short stature, Growth delay, Pulmonary fibrosis, Decreased DLCO, Intrauterine growth retardation,... |
OMIM:613990 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpuscular volume,... |
ORPHA:2169 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Multiple Osteochondromas |
|
Intestinal obstruction, Short stature, Pneumothorax, Arthritis, Dysphagia, Hemothorax |
ORPHA:321 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the... |
ORPHA:722 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Th... |
OMIM:617303 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Pylori... |
ORPHA:379 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Erythroderma, Abnormal ... |
ORPHA:39041 |
Short-Rib Thoracic Dysplasia 12 |
|
Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respiratory insufficiency, Lobulated to... |
OMIM:269860 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Short stature, Short hard palate, Anorexia |
ORPHA:1969 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Intestinal obstruction, Small for gestational age, Short stature, ... |
ORPHA:666 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Failure to thrive, High palate, Pancreatitis |
OMIM:236200 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Perisylvian polymicrogyria, Anteriorly placed anus, Dysphagia, Anterior hypop... |
ORPHA:280195 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Severe short stature |
OMIM:619345 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Hepatic steatosis, Bifid uvula, ... |
OMIM:270400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:600740 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... |
ORPHA:786 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrh... |
ORPHA:54251 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Restrictive ventilatory defect, Short stature, Abnormal pulmonary interstitial morphology, Cough |
OMIM:619013 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Convex nasal ridge, Anemia, Pancreatic aplasia |
OMIM:609069 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Short stature, Megaloblastic anemia, Thrombocytopenia, Recurrent infecti... |
OMIM:277380 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Anteverted nares, Asplenia, Esophageal atresia, Gastrointestin... |
OMIM:164280 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... |
ORPHA:653 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology... |
OMIM:617050 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Cryptorchidism, Splenomegaly, Macroglossia, Protein-losi... |
OMIM:618440 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Atelectasis, Feeding difficulties, Gastro... |
OMIM:613177 |
Dystonia 28 |
|
Short stature, Precocious puberty, Feeding difficulties, Dysphagia, Hypothyroidism |
ORPHA:589618 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi... |
ORPHA:258 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss, Bruxism, Dysphagia |
ORPHA:93958 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Odynophagia, Fulminant hepatitis, Diarrhea, ... |
ORPHA:319213 |
Hurler Syndrome |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Splenomegaly, Enlarged t... |
OMIM:607014 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, High palate, Hyperechogenic ... |
OMIM:617941 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Pulmonary fibrosis, Neutropenia, Thromb... |
OMIM:613989 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Meckel diverticulum, Abnormal g... |
ORPHA:2847 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Growth delay, Respiratory failure, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Atelosteogenesis Type I |
|
Malrotation of colon, Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Cleft palate |
ORPHA:1190 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... |
OMIM:614736 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis, Cough |
OMIM:619468 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated... |
ORPHA:435660 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Cardiomegaly, Weight loss |
ORPHA:85447 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Non-midline cleft lip, Orofacial cleft, Cleft palate, Polysplenia |
ORPHA:1335 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Congenital hypothyroidism, Stridor, Macrog... |
OMIM:218700 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus didelphys, Gray... |
OMIM:618820 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Increased circulating cortisol level, Truncal obesity, Agitation, Primary hypercort... |
OMIM:610475 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cleft palate, Cough |
ORPHA:2314 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Disproportionate short-limb short stature, Cleft palate |
ORPHA:85166 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... |
ORPHA:485405 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... |
OMIM:301074 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Intestinal malrotation, Cleft soft palate, Abdominal obesity, Hypoplasia of the ov... |
OMIM:619321 |
Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Increased circulating insu... |
ORPHA:99725 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Pituitary Dermoid And Epidermoid Cysts |
|
Nausea and vomiting, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Meningitis, Ol... |
ORPHA:91351 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... |
ORPHA:95455 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahe... |
OMIM:619534 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Constipation, Intestinal pseudo-obstruction, Lacrimal duct stenosis |
ORPHA:73246 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Digeorge Syndrome |
|
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... |
OMIM:188400 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Episodic hyperhidrosis, G... |
ORPHA:469 |
Leopard Syndrome 1 |
|
Hypospadias, Short stature, Delayed menarche, Cryptorchidism, Cleft palate, Hypoplasia of the ova... |
OMIM:151100 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... |
ORPHA:99819 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Peptic ulcer, Abdominal pain, Splenomegaly, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Abdominal pain |
ORPHA:293807 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough |
OMIM:615434 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Decreased response to growth horm... |
ORPHA:470 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Melas |
|
Hypoparathyroidism, Intestinal pseudo-obstruction, Short stature, Gastrointestinal dysmotility, D... |
ORPHA:550 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... |
ORPHA:83628 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Cleft palate, Severe short stature, Disproportionate short-limb short stature, Protuberant abdomen |
OMIM:184250 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Absen... |
OMIM:250250 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Recurrent pharyngitis, Myocarditis, Leukocytosis, Splenome... |
ORPHA:829 |
Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Anorexia, Knee ... |
ORPHA:1304 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... |
OMIM:235555 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent bacterial skin infections, Viral hepa... |
ORPHA:101330 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Cardiomegaly, Splenomegaly... |
ORPHA:465508 |
Irida Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology |
ORPHA:209981 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Malabsorption, Abnormality of the dentition, Splenomegaly, Adenoiditis, Rec... |
ORPHA:581 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Precocious puberty, Cleft palate, Growth delay, Gastroesophageal reflu... |
ORPHA:447980 |
H Syndrome |
|
Diabetes mellitus, Psoriasiform dermatitis, Short stature, Hypertriglyceridemia, Malabsorption, R... |
ORPHA:168569 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Biliary atresia |
OMIM:615272 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis... |
OMIM:613960 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Ab... |
ORPHA:729 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Pancreatic hypoplasia, Ataxia, Reduced pancreatic beta cells |
ORPHA:99885 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Abnormal liver lobulation, Protubera... |
OMIM:608022 |
Diamond-Blackfan Anemia 11 |
|
Short stature, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philt... |
ORPHA:3310 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Abdominal distention, Mic... |
OMIM:617156 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Williams Syndrome |
|
Cardiomegaly, Rectal prolapse, Dysmetria, Gastroesophageal reflux, Microdontia, Chronic otitis me... |
ORPHA:904 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Protuberant abdomen, Secondary hyper... |
OMIM:277440 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis |
OMIM:612840 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neutropenia, Micr... |
OMIM:617052 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
Fg Syndrome Type 1 |
|
Broad-based gait, Dental crowding, Choanal atresia, Abnormal large intestine morphology, Prominen... |
ORPHA:93932 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Ataxia, Hypothyroidism, Dysmetria, H... |
OMIM:616263 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Rhinitis |
ORPHA:507 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Thymoma |
|
Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Cou... |
ORPHA:99867 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... |
OMIM:262190 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, High ... |
ORPHA:96176 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Protuberant abdomen, Large for gestational age |
OMIM:618272 |
Cohen Syndrome |
|
Neutropenia, Leukopenia, Short stature, Delayed puberty |
OMIM:216550 |
Addison Disease |
|
Nausea and vomiting, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular... |
ORPHA:85138 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
Vacterl/Vater Association |
|
Cryptorchidism, Abnormality of the pancreas, Anorectal anomaly, Abnormality of the gallbladder, T... |
ORPHA:887 |
Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency, Microdontia |
ORPHA:3191 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss |
ORPHA:545 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the l... |
ORPHA:77293 |
Aceruloplasminemia |
|
Refractory anemia, Ataxia, Akinesia, Abnormal pancreas morphology, Hypochromic microcytic anemia,... |
ORPHA:48818 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, Pulmonary fibrosis... |
OMIM:607625 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Recurrent lower respiratory tract infections, Short stature, Neu... |
OMIM:618005 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties |
ORPHA:221098 |
Netherton Syndrome |
|
Recurrent respiratory infections, Short stature, Eczema, Skin rash, Malabsorption, Asthma, Erythr... |
ORPHA:634 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Abdominal distention, Premature osteoarthritis, Hepatosplenomegaly |
ORPHA:93352 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Dyspnea, Dysphagia, Restrictive v... |
ORPHA:93672 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Dyspnea, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Po... |
ORPHA:96182 |
Gm1 Gangliosidosis |
|
Short stature, Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Macroglossia, Weight loss,... |
ORPHA:354 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Anorexia, Reye syndrome-l... |
ORPHA:20 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... |
OMIM:619632 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatiti... |
OMIM:222700 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Small for gestational age, Protuberant abdomen, Disproportionate short-trunk short stature |
OMIM:613330 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, As... |
OMIM:209900 |
Wolcott-Rallison Syndrome |
|
Short stature, Recurrent infections, Growth delay, Iron deficiency anemia, Lymphocytosis, Neutrop... |
ORPHA:1667 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Intestinal bleeding, Pulmonary fibrosis, Intrauterin... |
OMIM:612199 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
OMIM:603467 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... |
ORPHA:139402 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Jacobsen Syndrome |
|
Anteverted nares, Intestinal malrotation, Eczema, Feeding difficulties in infancy, Cryptorchidism... |
ORPHA:2308 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma, Poor appetite, Weight loss |
ORPHA:312 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Abdominal distention, Thin vermilion border, Hepatomegaly |
OMIM:602557 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Optic Pathway Glioma |
|
Precocious puberty, Growth delay, Vomiting, Nausea |
ORPHA:2086 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... |
ORPHA:99921 |
Maple Syrup Urine Disease |
|
Feeding difficulties in infancy, Vomiting, Pancreatitis |
OMIM:248600 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Dyspnea, Abnor... |
ORPHA:284 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Neoplasm of the colon, Skin rash, Abnormality of the menstr... |
ORPHA:556 |
Achondrogenesis, Type Ii |
|
Disproportionate short-trunk short stature, Cleft palate, Stillbirth, Disproportionate short-limb... |
OMIM:200610 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion border, Widely spaced t... |
OMIM:617102 |
Steinfeld Syndrome |
|
Absent gallbladder, Bifid uvula, Aplasia of the nose, Median cleft lip and palate |
OMIM:184705 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Recurrent bacterial infections, Skin rash, Recurrent viral... |
OMIM:618048 |
Limb-Mammary Syndrome |
|
Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Cleft hard palate, Pri... |
ORPHA:69085 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura... |
OMIM:241600 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Postnatal growth retardation, Chron... |
OMIM:242840 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Feeding difficulties, Pancreatic aplasia |
ORPHA:261265 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Recurrent viral infections, Lymphadenitis, Recurrent bacterial infections, Recurrent f... |
ORPHA:331206 |
Hypophosphatasia |
|
Emphysema, Short stature, Respiratory insufficiency |
ORPHA:436 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to gr... |
OMIM:604292 |
Schwartz-Jampel Syndrome |
|
Apnea, Short stature, Cachexia, Feeding difficulties in infancy, Respiratory insufficiency, Cleft... |
ORPHA:800 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Tented upper lip vermil... |
OMIM:229850 |
Cerebrotendinous Xanthomatosis |
|
Ataxia, Chronic diarrhea, Gait disturbance, Prolonged neonatal jaundice, Cholelithiasis, Prematur... |
ORPHA:909 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Prominent nose, Cardiomegaly, Microcytic anemia, Increased circulating IgG level, Conjunctivitis,... |
OMIM:256040 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... |
ORPHA:33577 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Oral leukoplakia, Pulmonary fibrosis |
OMIM:224230 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis, Hepatic failure |
ORPHA:664 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... |
OMIM:216360 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Poor suck, Female infertility |
OMIM:619518 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Asthma, Recurrent pneumonia, Diarrhea,... |
OMIM:309900 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Hematemesis, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Interstitial pneumonitis, Oral leukoplakia, Pulmonary fibrosis |
OMIM:127550 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Constipation |
ORPHA:2126 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Recurrent inf... |
ORPHA:79243 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Growth delay, Failure to thrive, Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:264700 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Eczema, Allergic rhinitis, Feeding difficulties, Decreased circulating total IgM, High palate, Co... |
OMIM:618162 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Tracheal stenosis, Hypothyroidism, Goiter |
ORPHA:705 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections |
OMIM:601005 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Saul-Wilson Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia |
OMIM:618150 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Large for gestational age, Precocious puberty, Recurrent infections, Gastroesophag... |
ORPHA:261652 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Biliary atresia |
ORPHA:565899 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Postnatal growth retardation, Cryptorchidism, Neonatal asphyxia, Cleft palate, Rec... |
ORPHA:2728 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... |
ORPHA:567544 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Weight loss |
ORPHA:517 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Increased circulating ... |
OMIM:613239 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Recurrent gastroenteritis |
ORPHA:309288 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Pericarditis, Maculopap... |
ORPHA:99826 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Small for gestational a... |
ORPHA:26793 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Severe short stature, Cachexia, Feeding ... |
ORPHA:191 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Anorexia, Abdominal pain, Weight loss, Hyperhidrosis, Arthritis, Gastroi... |
ORPHA:397 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Proportionate short stature, Feeding difficulties in infancy, Weight loss, ... |
ORPHA:3208 |
Campomelia, Cumming Type |
|
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... |
ORPHA:1318 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Median cleft lip, Unilateral cryptorchidism, Anteverted nares, High... |
ORPHA:96149 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory... |
ORPHA:365 |
Schneckenbecken Dysplasia |
|
Cleft palate, Stillbirth, Disproportionate short-limb short stature, Protuberant abdomen |
OMIM:269250 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... |
ORPHA:556030 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstitial morphology, Dysphagia |
ORPHA:206569 |
Chops Syndrome |
|
Short stature, Gastroparesis, High, narrow palate, Cryptorchidism, Splenomegaly, Obesity, Anomalo... |
OMIM:616368 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Bifid uvula, Cleft palate, Decreased body weight |
OMIM:300958 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Wolfram Syndrome |
|
Central apnea, Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnor... |
ORPHA:3463 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Postnatal growth retardation, Secondary hyperparathyroidism, Protuberant abdomen, ... |
ORPHA:289157 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Pierre-Robin sequence, Cleft palate, An... |
OMIM:217980 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain |
ORPHA:405 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Abdominal pain |
ORPHA:676 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Splenomegaly, Di... |
OMIM:615846 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Neutropenia |
OMIM:609053 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... |
OMIM:210900 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorption, Dyspnea, Weight ... |
ORPHA:79430 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis... |
ORPHA:35687 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, Ma... |
OMIM:253220 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Abdomin... |
OMIM:615688 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... |
OMIM:115470 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Precocious puberty, Feeding di... |
ORPHA:819 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Diarrhea, Tachypnea, Respiratory insufficiency, Fe... |
OMIM:618278 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... |
ORPHA:2330 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... |
ORPHA:556037 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Pituitary adenoma, Primary hyperparat... |
ORPHA:97289 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Short stature, Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, ... |
OMIM:300472 |
Pancreatic insufficiency, combined exocrine |
|
Anasarca, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Clef... |
ORPHA:254346 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Ataxia-Telangiectasia |
|
Sinusitis, Female hypogonadism, Diabetes mellitus, Short stature, Elevated circulating alpha-feto... |
OMIM:208900 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... |
ORPHA:91347 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Severe short stature, Cachexia, Ascites |
OMIM:610965 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis, Abnormality of the liver |
ORPHA:2040 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... |
OMIM:232240 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Anorexia, Diarrhea, Tachypnea, Weight loss, Vomiting, Agitation, Cough, Oral aversion |
ORPHA:134 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Downturned corners of mouth, Gastroesophageal reflux, Short philtrum, C... |
OMIM:616268 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia |
ORPHA:79264 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Fibrochondrogenesis 1 |
|
Anteverted nares, Depressed nasal bridge, Narrow mouth, Cleft palate, Stillbirth, Protuberant abd... |
OMIM:228520 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Gastroparesis, Depressed nasal bridge, Feeding difficulties in infancy, Gastr... |
ORPHA:500150 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Anteverted nares, Choanal atresia, Cryptorchidism, Cleft lip, Bulbous nose, Furrowed tongue, Feed... |
OMIM:616975 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Dyspnea, Crescenti... |
ORPHA:93126 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Weight loss, Goiter |
OMIM:188580 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ataxia, Inability to walk, Cleft palate, Feeding difficulties, Downturned corners of mouth, Gait ... |
ORPHA:488642 |
Meckel Syndrome 14 |
|
Abdominal distention, Anteverted nares, Hepatic fibrosis, Protuberant abdomen |
OMIM:619879 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neon... |
OMIM:311900 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Malabsorption, Abn... |
ORPHA:175 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Intr... |
ORPHA:2075 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Anteverted nares, Malformation of the hepatic ductal plate, High, narrow palate, Wi... |
OMIM:218330 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis,... |
OMIM:615895 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Splenomegaly, Diarrhea,... |
OMIM:260920 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... |
ORPHA:728 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Cyst of the ductus choledochus, Feeding difficulties, Chronic constipati... |
OMIM:619480 |
Muir-Torre Syndrome |
|
Colonic diverticula, Ovarian neoplasm, Adenoma sebaceum, Colon cancer, Benign gastrointestinal tr... |
OMIM:158320 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Cleft palate, Hyp... |
OMIM:214110 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Feeding difficulties, Hypopnea, Restrictive... |
OMIM:619482 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
Stickler Syndrome |
|
Slender build, Short stature, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Cleft pa... |
ORPHA:828 |
Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... |
ORPHA:90695 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Dyspnea, Neutropenia, Microcytic anemia |
OMIM:251900 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Recurrent pne... |
OMIM:252500 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Pyloric s... |
OMIM:235730 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Orofacial cleft, Narrow mouth, Tracheal st... |
ORPHA:3301 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Hypospad... |
ORPHA:798 |
Frontometaphyseal Dysplasia 2 |
|
Depressed nasal bridge, Broad nasal tip, Feeding difficulties in infancy, Cryptorchidism, Pyloric... |
OMIM:617137 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Peters Plus Syndrome |
|
Intestinal fistula, Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptor... |
ORPHA:709 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Growth delay, Neutropenia, Recurrent infections |
OMIM:615471 |
1P36 Deletion Syndrome |
|
Depressed nasal bridge, Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Abnorm... |
ORPHA:1606 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Simplified gyral pattern |
OMIM:619877 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Craniopharyngioma |
|
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short... |
ORPHA:54595 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Attention deficit... |
ORPHA:251071 |
Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections |
ORPHA:182 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares, Protuberant abdomen |
OMIM:614524 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Psoriasiform dermatitis, Diabetes mellitus, Septate vagina, Uterus didelphys,... |
ORPHA:2237 |
Oeis Complex |
|
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... |
OMIM:258040 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Cryptorchidism, Supernumerary tooth, Hypoplasi... |
OMIM:268400 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Gastroesophageal reflux, High palate, Broad uvula, Emphys... |
OMIM:619472 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Abnor... |
ORPHA:221 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Feeding difficulties, Labial hypoplasia, Micropenis |
OMIM:620073 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Disproportionate short-limb short stature, Protuberant abdomen, Ne... |
OMIM:187600 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Congenital hypothyroidism, Decreased response to growth hormone stimulation te... |
OMIM:601427 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Thrombocytopeni... |
OMIM:227646 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... |
ORPHA:221139 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia |
ORPHA:314655 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Melena, Kerat... |
OMIM:158310 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Depressed nasal bridge, Microvesicular hepatic steatosis, Splenom... |
OMIM:619418 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Increased mea... |
ORPHA:33364 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... |
ORPHA:141127 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Episodic abdominal pain, Hepatosplenomegaly, Vomiting, Nausea |
OMIM:238600 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Splenomegaly, Thick vermilion border, Tracheal stenosis |
OMIM:607015 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short lingual frenulum, Depressed nasal bridge, Wide nasal bridge, Feeding difficulties, Widely s... |
OMIM:619479 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Pleural effusion, Protein-losing enteropathy, Int... |
OMIM:235510 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Chand Syndrome |
|
Atelectasis, Bifid tongue, Imperforate hymen, Cleft palate |
ORPHA:1401 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Short stature, Pneumonia, Skin rash, Autoimmune thromb... |
ORPHA:1855 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis, Gingival ble... |
ORPHA:77259 |
Miller-Dieker Lissencephaly Syndrome |
|
Pachygyria, Cryptorchidism, Cleft palate, Gray matter heterotopia, Lissencephaly, Intrauterine gr... |
OMIM:247200 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Thrombocytopenia, Reticulocytopenia, Neutropenia, Intrauterine growt... |
OMIM:227645 |
Bainbridge-Ropers Syndrome |
|
Intestinal malrotation, Supernumerary nipple, Precocious puberty, Cryptorchidism, Recurrent infec... |
OMIM:615485 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, ... |
ORPHA:96191 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Disproportionate short stature, Tracheo... |
ORPHA:2879 |
Leigh Syndrome |
|
Eczema, Severe viral infection, Growth delay, Respiratory failure, Neutropenia, Intrauterine grow... |
ORPHA:506 |
Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Weight loss, Nausea, Episodic abdominal pain |
ORPHA:94080 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... |
ORPHA:769 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption, Malnutrition, Diarrhea, Decreased body weight |
ORPHA:96180 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pneumonia, Short stature, Hiatus hernia, Malrotation of colon, High, narrow palate, ... |
OMIM:122470 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Shawl scrotum, Cryptorchidism, Feedi... |
ORPHA:2745 |
Lethal Kniest-Like Dysplasia |
|
Cleft palate, Severe short-limb dwarfism, Protuberant abdomen, Mesomelic/rhizomelic limb shortening |
ORPHA:2347 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:614887 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis |
OMIM:217090 |
Jacobsen Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Pyloric stenosis, Thrombocytopenia, Ann... |
OMIM:147791 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Periodontitis, Hepatomegaly, Abnorm... |
ORPHA:1775 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Short stature, Postnatal growth retardation, ... |
ORPHA:576 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abnormality of the gastrointestinal tract, Membrano... |
ORPHA:91139 |
Orofaciodigital Syndrome Ix |
|
Short stature, High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:258865 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Anteverted nares, Pneumonia, Depressed nasal bridge, Bulbous nose, Wide nasal bridg... |
OMIM:617809 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Eczema |
OMIM:617241 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... |
OMIM:200600 |
Liposarcoma |
|
Nausea and vomiting, Weight loss, Abdominal pain |
ORPHA:69078 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Depressed nasal bridge, Cleft upper lip, Cryptorchidism, Esophageal atresia, Abdominal... |
ORPHA:93271 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis |
ORPHA:70595 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Delayed puberty,... |
ORPHA:1328 |
Cholera |
|
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Dehydrati... |
ORPHA:173 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Weight loss, Chronic constipation, Agitation, Dysphagia |
ORPHA:411602 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Inappropriate b... |
OMIM:168605 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... |
ORPHA:70 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Polycythemia, Cardiomegaly, Feeding difficulties in infancy, Cryptorchidism, Spleno... |
ORPHA:116 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,... |
OMIM:263520 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... |
ORPHA:99226 |
Turner Syndrome |
|
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... |
ORPHA:881 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Short stature, Cachexia |
ORPHA:220295 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Malabsorption, Feeding difficulties in infancy, Cryptorchidism,... |
ORPHA:534 |
Atelosteogenesis, Type I |
|
Depressed nasal bridge, Cryptorchidism, Cleft palate, Stillbirth, Protuberant abdomen, Neonatal d... |
OMIM:108720 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Abdominal pain |
OMIM:608189 |
Hydrolethalus |
|
Tracheal atresia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abno... |
ORPHA:2189 |
Slc35A2-Cdg |
|
Failure to thrive in infancy, Short stature, Increased circulating thyroglobulin level, Precociou... |
ORPHA:356961 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... |
ORPHA:1790 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Eczema, Apnea, Growth delay, Neutropenia, Hyperventilation |
OMIM:617799 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Cleft lip, Pulmonary lymphangiectasia, Trac... |
OMIM:265380 |
Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, High, narrow palate, Cleft palate, Atte... |
ORPHA:558 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Hypercapnia, Respiratory insufficiency due to muscle weakness, Nasogastric tube fe... |
ORPHA:2020 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Bifid uterus, Epispadias... |
ORPHA:322 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... |
OMIM:174800 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Respiratory insufficiency, Weight loss, Dysphagia |
OMIM:607459 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder |
ORPHA:349 |
Neu-Laxova Syndrome 2 |
|
Cleft palate, High palate, Protuberant abdomen, Intrauterine growth retardation |
OMIM:616038 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
Thymic Carcinoma |
|
Hyperhidrosis, Dyspnea, Weight loss, Cough |
ORPHA:99868 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda... |
OMIM:261540 |
Curry-Jones Syndrome |
|
Chronic constipation, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation |
OMIM:601707 |
Tarp Syndrome |
|
Failure to thrive, Apnea, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morpholog... |
ORPHA:2886 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Gaucher Disease, Type I |
|
Dyspnea, Epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension |
OMIM:230800 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Chronic constipation, Gastroesophageal reflux, Feeding difficulties |
OMIM:301032 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Short stature, Chronic pancreatitis, Cryptorchidism, Growth delay, Adr... |
OMIM:307030 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Median cleft lip, Aplasia of the nose, Orofacial cleft |
ORPHA:3186 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Intrauterine growth retardation,... |
OMIM:619488 |
Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Severe short stature, Rhizomelia, Respiratory insufficiency due to muscle weakness... |
ORPHA:239 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Rhizomelia, Stillbirth, Protuberant abdomen, Neonatal short-limb short stature |
OMIM:151210 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Chronic otitis media, Ataxia, Abnormal dental enamel morphology, H... |
ORPHA:2750 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss, Anorexia, Exertional dyspnea |
ORPHA:514 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, High, narrow palate, Obesity, Gray matter heterotopia, High palate, Gastroeso... |
OMIM:619312 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Hypersplenism, Hepatitis, Thyroiditis, Recurrent infections, Hepatospl... |
ORPHA:228426 |
Myhre Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... |
ORPHA:2588 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus |
ORPHA:2736 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Anhidrosis, Conical tooth, Splenomegaly, Chronic diarrhea, Hypohidrosis, Aplasia of... |
OMIM:612132 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc... |
ORPHA:99829 |
Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Tracheal st... |
OMIM:620183 |
Jung Syndrome |
|
Tracheal stenosis, Depressed nasal bridge, Hypothyroidism, Wide nasal bridge |
ORPHA:2321 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Keratitis, Neonatal asphyxia, Splenomegaly, Neutropenia in presence of anti-neutrop... |
ORPHA:525731 |
Smith-Lemli-Opitz Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Advanced eruption of teeth, Abnormal de... |
ORPHA:818 |
Nijmegen Breakage Syndrome |
|
Anal atresia, Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Sho... |
OMIM:251260 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Weight loss |
ORPHA:3165 |
Greenberg Dysplasia |
|
Hepatomegaly, Depressed nasal bridge, Depressed nasal ridge, Hepatic calcification, Hepatosplenom... |
OMIM:215140 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... |
ORPHA:124 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Asplenia, Cryptorchidism, Cleft palate, High palate, Abnormal liver lobul... |
ORPHA:99776 |
Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
Relapsing Fever |
|
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia |
ORPHA:91547 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Pancreatic cysts, Crypto... |
ORPHA:564 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Growth delay, Pulmonary arterial ... |
ORPHA:79282 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Pneumothorax, Malrotati... |
ORPHA:2953 |
Gaucher Disease |
|
Osteomyelitis, Short stature, Osteoarthritis, Abnormal pulmonary interstitial morphology, Dysphag... |
ORPHA:355 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Dyskeratosis Congenita, X-Linked |
|
Short stature, Esophageal stricture, Restrictive ventilatory defect, Conjunctivitis, Pulmonary fi... |
OMIM:305000 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus |
OMIM:617466 |
Overlap Myositis |
|
Abnormal pulmonary interstitial morphology, Arthritis, Rheumatoid arthritis, Dysphagia, Pulmonary... |
ORPHA:206572 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Asthma, Obesity, Pancreatitis |
OMIM:619471 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Intermittent hyperventilation, Precocious puberty, Obesity, Abnormality of neuronal... |
ORPHA:163681 |
Cohen Syndrome |
|
Neutropenia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:193 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... |
ORPHA:49041 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Broad nasal tip, Depressed nasal ridge, Feeding difficulties, Nasal congestion, Short columella, ... |
ORPHA:79345 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Adrenocortical Carcinoma |
|
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Wei... |
ORPHA:1501 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Diarrhea, Abnormal blood ion concentration, Dehydration, Hypophosphate... |
ORPHA:31824 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Adrenal pheochromocytoma, Epi... |
ORPHA:276621 |
Coffin-Siris Syndrome |
|
Hypospadias, Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract infe... |
ORPHA:1465 |
Meier-Gorlin Syndrome 4 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Short stature |
OMIM:613804 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Gastroesophageal reflux, Hepatic hemangioma, Dysphagi... |
ORPHA:73230 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Ascites |
OMIM:617300 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lym... |
ORPHA:464329 |
9P13 Microdeletion Syndrome |
|
Short stature, External genital hypoplasia, Precocious puberty, High palate, Recurrent otitis media |
ORPHA:324313 |
Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Re... |
OMIM:606721 |
Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the v... |
OMIM:614527 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Decreased circulating cortisol level, Salt craving, Anorexia, Abdominal pain... |
ORPHA:95409 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombo... |
ORPHA:293978 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyloric stenosis, Pneumothorax, Recurrent pneumonia, Respirat... |
ORPHA:90349 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Failure to thrive |
OMIM:256700 |
Abetalipoproteinemia |
|
Hepatomegaly, Chronic diarrhea, Respiratory failure, Keratoconjunctivitis sicca, Vomiting, Hepati... |
ORPHA:14 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splen... |
OMIM:613471 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Rothmund-Thomson Syndrome |
|
Skin rash, Aplastic anemia, Short stature, Neutropenia, Leukemia, Malar rash, Anemia |
ORPHA:2909 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Growth delay, Hypopnea, Respiratory failure, Neutropenia, Respiratory arrest |
OMIM:617248 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Panniculitis, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Biliary cirrhosis, Anterior pituit... |
ORPHA:227990 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity, Gout, Hypothyroidism |
ORPHA:412 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Growth delay, ... |
OMIM:614083 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Nasogastric tube feeding in... |
ORPHA:1708 |
Carpenter Syndrome 1 |
|
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, High pal... |
OMIM:201000 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Thin upper lip vermilion, Cleft palate, Protuberant abdomen, Long philtru... |
ORPHA:56304 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Ele... |
ORPHA:247691 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Marshall-Smith Syndrome |
|
Apnea, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Recurrent upper... |
OMIM:602535 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Cyst of the ductus ... |
ORPHA:480880 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Intestinal malro... |
OMIM:618280 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Primary adrenal insufficiency, Weight loss, Res... |
ORPHA:2905 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Neutropenia, Intrauterine growth retardation, Lymphopenia, Anemia |
OMIM:618460 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Wide nose, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cr... |
ORPHA:96334 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Elevated circulating aspartate aminotransferase concent... |
OMIM:617253 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... |
OMIM:130050 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Rhizomelia, Disproportionate short-limb short stature, Neutropenia |
OMIM:271510 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Aspiration pneumonia |
OMIM:619167 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Short s... |
ORPHA:99843 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... |
ORPHA:284339 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Depressed nasal bridge, Pancreatic fibrosis |
OMIM:615503 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, Splenomegal... |
OMIM:219800 |
Loeffler Endocarditis |
|
Pericarditis, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy |
ORPHA:75566 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Hypospadias, Supernumerary nipple, Short stature, Rhizom... |
ORPHA:397715 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious teeth, Supernum... |
OMIM:311200 |
Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... |
ORPHA:707 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Keutel Syndrome |
|
Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurrent otit... |
ORPHA:85202 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in... |
OMIM:149730 |
Multiple Myeloma |
|
Splenomegaly, Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Chronic constipation, Short stature, Aspiration pneumonia, Feeding difficulties |
OMIM:616430 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, W... |
ORPHA:85408 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Anteverted nares, Depressed nasal bridge, Protruding tongue, Protuberant abdomen, Lo... |
ORPHA:50945 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Intestinal mal... |
ORPHA:353281 |
Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, High palate, Pneumonia, Short stature |
ORPHA:2135 |
Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Crypt... |
ORPHA:84 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Abnormal blood ion concentration, Dehydration, Hypokalemia, Co... |
ORPHA:411629 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Long philtrum, Short nose |
OMIM:258480 |
Kabuki Syndrome 1 |
|
Anal stenosis, Short stature, Intestinal malrotation, Premature thelarche, Malabsorption, Postnat... |
OMIM:147920 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Precocious puberty, Disproportionate short stature, Abnormality... |
ORPHA:2637 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Short stature, Decreased body weight |
OMIM:605822 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Small for gestational age, Hypospadias, Short stature, Precocious puberty, Cryp... |
OMIM:194190 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopeni... |
OMIM:105650 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Precocious puberty, Hypothyroidism, R... |
ORPHA:58 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Precocious puberty, Hepatosplenomegaly, Aspiration pneumonia... |
ORPHA:845 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Short stature, Growth delay, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... |
ORPHA:79404 |
Fontaine Progeroid Syndrome |
|
Small scrotum, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Neonatal dea... |
OMIM:612289 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Short stature, Decreased serum iron, Breathing dysregulation, Abnormality... |
ORPHA:438213 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Depressed nasal bridge, Cholangitis, Accessory oral frenulum, Ataxia, Pancreatic cy... |
OMIM:266920 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting,... |
ORPHA:340 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Pneumothorax, C... |
OMIM:601776 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Adrenal pheochromocytoma, Epi... |
ORPHA:29072 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Bronchitis, Glomeruloneph... |
ORPHA:289390 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Choreoacanthocytosis |
|
Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Ele... |
ORPHA:2388 |
Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Atopic dermatitis, Edema |
ORPHA:498359 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Encopresis, Feeding di... |
OMIM:616682 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Feeding difficulties, Anterior predominant thick cortex pachygyria, ... |
ORPHA:95232 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Aplasia of the uterus |
ORPHA:3320 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Short stature, Growth delay, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer, Short stature, Delayed puberty |
OMIM:208060 |
Short Syndrome |
|
Severe short stature, Poor appetite, Weight loss |
ORPHA:3163 |
Tropical Endomyocardial Fibrosis |
|
Orthopnea, Hepatomegaly, Cachexia, Cardiomegaly, Dyspnea, Splenomegaly, Malnutrition, Pulmonary v... |
ORPHA:75565 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Polycy... |
OMIM:608594 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Malabsorption, Precocious puberty, Feeding difficulties in i... |
ORPHA:50 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Supernumerary nip... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Supernumerary nip... |
ORPHA:352665 |
Knobloch Syndrome 2 |
|
Pyloric stenosis, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections |
OMIM:618458 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... |
ORPHA:353277 |
Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Widely spac... |
ORPHA:2152 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Malnutrition, Dysphagia, Impotence, Constipation, Erectile dy... |
ORPHA:99027 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Proportionate short stature, Narrow palate, High palate, Protuberant abdomen |
OMIM:608328 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Tracheal atresia |
OMIM:601612 |
Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Hyperhidrosis, Weight loss, Constipation, Posterior uveitis |
ORPHA:52417 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Cle... |
ORPHA:2322 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... |
ORPHA:64 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:93924 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Posteriorly placed anus, Asplenia, Biliary atre... |
OMIM:306955 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Hepatoblastoma,... |
OMIM:130650 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Elevated circulating alpha-fetoprotein conce... |
ORPHA:280633 |
Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, ... |
ORPHA:466677 |
Aicardi Syndrome |
|
Hiatus hernia, Precocious puberty, Postnatal growth retardation, Recurrent pneumonia, Cleft palat... |
OMIM:304050 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... |
ORPHA:99889 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Anteverted nares, Wide mouth, Long philtrum, Tracheal stenosis, Short nose, Smooth ... |
OMIM:231050 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Polycy... |
OMIM:269700 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... |
ORPHA:369837 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma |
ORPHA:2874 |
Norrie Disease |
|
Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Dela... |
ORPHA:649 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Abnormal l... |
ORPHA:672 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Fraser Syndrome |
|
Anal stenosis, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft upper lip, Underdev... |
ORPHA:2052 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Abnormal cortical gyration, Bifid uterus, Abnormal lung lobation, ... |
OMIM:236680 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula, Anteriorly placed anus |
OMIM:608980 |
Hypermobile Ehlers-Danlos Syndrome |
|
Nausea and vomiting, Apnea, Abnormality of the menstrual cycle, Malabsorption, Gastrointestinal d... |
ORPHA:285 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Duodenal ulcer, Intestinal malrotation, Hypospadias, Short stat... |
OMIM:135900 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypothyroidism |
OMIM:613673 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Growth delay, Short stature |
OMIM:163200 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Growth delay, Delay... |
ORPHA:77261 |
Mucopolysaccharidosis, Type Vi |
|
Short stature, Pneumonia, Recurrent upper respiratory tract infections, Disproportionate short-tr... |
OMIM:253200 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... |
ORPHA:744 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Pancreatitis |
ORPHA:565612 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Small for gestational age, Hypospadias, Bifi... |
OMIM:107480 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries |
OMIM:151660 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Precocious puberty, Asthma, Growth delay, Periodontitis, Type I diab... |
OMIM:619269 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Recurrent respiratory infections, Short stature, Cleft soft palate, Precocious puberty, High, nar... |
OMIM:619950 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... |
ORPHA:363958 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Short stature, Acne, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Pulmonary fibrosis |
ORPHA:3337 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the philtrum, Ataxia, Cleft upper lip, Cryptorchidism, Abnormality of the gallblad... |
ORPHA:280 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Asplenia, Short philtrum, Bifid uvula, Abnormal dental morpho... |
ORPHA:261537 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypertriglyceridemia, Small for gestational age, Pneumonia, Hyp... |
OMIM:264090 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary ... |
OMIM:243800 |
Fraser Syndrome 1 |
|
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... |
OMIM:210720 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Feeding difficulties, Pyelonephritis, Vomiting, Small bowel diverticula, Bronchio... |
ORPHA:90348 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Seborrheic dermatitis, Pancreatic cysts, Cleft palate, Hepatosplenomegaly, Aplasia... |
OMIM:274000 |
Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Abdominal distention... |
ORPHA:97214 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Cleft palate, Stillbirth, Lissencephaly, Pulmonary hypoplasia, Neon... |
OMIM:256520 |
Larsen Syndrome |
|
Depressed nasal bridge, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Tracheal stenosis |
OMIM:150250 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Asthma, Obesit... |
ORPHA:444077 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypomagnese... |
ORPHA:94093 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Aspiration pneumonia, Intrauterine growth retardation |
ORPHA:79255 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Weight loss, Testicular teratoma |
ORPHA:764 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, In... |
ORPHA:68 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Gastrostomy tube feeding in infancy |
ORPHA:457284 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Hyperhidrosis, Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Pyelonephritis, Pituitary growth hormone cell adenoma... |
ORPHA:730 |
Familial Thrombocytosis |
|
Splenomegaly, Pulmonary arterial hypertension, Hyperhidrosis, Weight loss |
ORPHA:71493 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Aggressive behavior, Keratitis, Splenomegaly, Diarrhea, Jaundice, Myo... |
ORPHA:3385 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenome... |
ORPHA:309282 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Aplasia/Hypoplastia of the e... |
ORPHA:1662 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Asplenia, Short philtrum, Bifid uvula, Abnormal dental morpho... |
ORPHA:261552 |
Pyknoachondrogenesis |
|
Abdominal distention, Abnormality of mouth shape, Depressed nasal ridge |
ORPHA:3003 |
Sponastrime Dysplasia |
|
Rhizomelia, Recurrent pneumonia, Disproportionate short-limb short stature, Neutropenia, Intraute... |
ORPHA:93357 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia |
OMIM:193300 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Weight loss |
OMIM:137440 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Splenomega... |
ORPHA:2729 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Concave nasal ridge, Erythroderma |
OMIM:302960 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Short stature, Celiac disease, Cryptorchidism, Precocious... |
ORPHA:2044 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Renal Nutcracker Syndrome |
|
Weight loss, Nausea, Abdominal pain |
ORPHA:71273 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Thrombocytopenia |
OMIM:301072 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Mild short stature, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen |
OMIM:618019 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Narrow palate, Anteri... |
OMIM:276820 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth ho... |
ORPHA:79318 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Abdominal pain, Pancreatic cysts, Myocar... |
ORPHA:892 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Rhizomelia, Hypospadias |
OMIM:615877 |
Atresia Of Urethra |
|
Abdominal distention, Ascites |
ORPHA:105 |
Keutel Syndrome |
|
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... |
OMIM:245150 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Pallister-Killian Syndrome |
|
Small scrotum, Anteriorly placed anus, Apneic episodes in infancy, Bifid uvula, Hyperventilation,... |
OMIM:601803 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Hypothyroidism, Adenoma sebaceum, Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Short stature, High, narrow palate, Cryptorchidism, Pneumothorax, Cystocele, Pulmona... |
ORPHA:286 |
Genitopatellar Syndrome |
|
Anal stenosis, Cryptorchidism, Malrotation of small bowel, Feeding difficulties, Anteriorly place... |
OMIM:606170 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Pachygyria, Cleft palate, Micropenis, Failure to thrive |
ORPHA:1934 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Emphysema |
ORPHA:363618 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Neonatal respiratory distress, Hepatomegaly, Intestinal malrota... |
OMIM:312870 |
Fraser Syndrome 3 |
|
Wide nose, Convex nasal ridge, Stillbirth, Ascites, Tracheal atresia |
OMIM:617667 |
Neurofibromatosis Type 1 |
|
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochrom... |
ORPHA:636 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Narrow palate, Cleft palate, Congenital hypothyroidism... |
ORPHA:79500 |
Loeys-Dietz Syndrome |
|
High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... |
ORPHA:91500 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism, Adenoma sebaceum, Pulmonary lymphangiomyomatosis |
OMIM:613254 |
Yunis-Varon Syndrome |
|
Absent nipple, Small for gestational age, Failure to thrive in infancy, Hypospadias, Pyloric sten... |
OMIM:216340 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Upper airway obstruction, Weight loss, High palate, Severe failure to thrive, Pul... |
ORPHA:740 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Lymphadenopathy, Ab... |
ORPHA:536 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Splenomegaly, Abnormal lung morphology, Jaundice, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Submucous cleft hard palate, High palate |
OMIM:618971 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Growth delay, Recurrent Staphylococcus aureus infections, Sept... |
ORPHA:642 |
17Q11 Microdeletion Syndrome |
|
Short stature, Gastrointestinal stroma tumor, Precocious puberty, Abnormal lung morphology, Glomu... |
ORPHA:97685 |
Goodpasture Syndrome |
|
Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory def... |
OMIM:233450 |
Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |