Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... |
OMIM:612567 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... |
OMIM:266600 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Enterocolitis, Diarrhea |
OMIM:260005 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea |
OMIM:191390 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Gastroesophageal Reflux |
|
Gastroesophageal reflux, Esophageal neoplasm, Esophagitis, Barrett esophagus |
OMIM:109350 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis |
OMIM:616098 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Chronic diarrhea, Colitis, B-cell lymphoma |
OMIM:619164 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Chronic diarrhea, Pneumonia, Atopic der... |
OMIM:617638 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea |
OMIM:617442 |
Immunodeficiency 70 |
|
Achalasia, Recurrent sinusitis, Celiac disease, Furuncle, Colitis, Verrucae |
OMIM:618969 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Recurren... |
OMIM:300635 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Diarrhea 6 |
|
Abdominal pain, Crohn's disease, Chronic diarrhea |
OMIM:614616 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abdominal pain, Inflammation of the large intestine, Constipation, Intestina... |
ORPHA:26790 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Co... |
OMIM:613960 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Ileal ulcer, Colitis |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Sterile arthritis, Cystic acne, Colitis, Acne |
OMIM:604416 |
Immunodeficiency 14B, Autosomal Recessive |
|
Recurrent sinusitis, Inflammation of the large intestine, Recurrent pneumonia, Colitis, Chronic d... |
OMIM:619281 |
Immunodeficiency 57 With Autoinflammation |
|
Diarrhea, Bronchiectasis, Perianal abscess, Skin rash, Inflammation of the large intestine, Gastr... |
OMIM:618108 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis, Chronic diarrhea |
OMIM:618394 |
Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... |
ORPHA:95427 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Rheumatoid arthritis, Myelodysplasia, Myositis, Inflammation of the large intes... |
ORPHA:48104 |
Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Vomiting, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Vomiting, Dysphagia |
OMIM:613412 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea |
OMIM:614602 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Jejunal atresia, Interface hepatitis, Duodenal atresia, Hematoche... |
OMIM:243150 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Colitis |
OMIM:613101 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Vomiting, Eosinophilic infiltration of the es... |
ORPHA:411696 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphoma, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash... |
ORPHA:911 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Villous atrophy, Feeding difficulties in infancy, Skin rash, Episodic vomiting, Se... |
OMIM:616050 |
Immunodeficiency 40 |
|
Intermittent diarrhea, Chronic oral candidiasis, Interstitial pneumonitis, Recurrent otitis media... |
OMIM:616433 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, ... |
OMIM:209920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoma, Conjunctivitis, Atrophic gastritis, Bronchiectasis, Villous atrophy, Erythema nodosum, ... |
OMIM:614700 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Bronchiectasis, Allergic rhinitis, Esophagitis, Eczema, Cutaneous ... |
OMIM:618131 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Inflammation of the large i... |
OMIM:106300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, High palate, Necrotizing enterocolitis, Abdominal pain, Feeding difficulties |
OMIM:616809 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Diarrhea, Perianal abscess, Skin rash, Chronic constipation, Arthritis, Abdominal pain, Inflammat... |
OMIM:301074 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Neoplasm of head and neck, Ulcerati... |
ORPHA:99867 |
Sapho Syndrome |
|
Acne, Osteomyelitis, Chronic diarrhea, Enthesitis, Skin rash, Arthritis, Abdominal pain, Synoviti... |
ORPHA:793 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Autoimmune Hepatitis |
|
Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Abdominal pain, Hepatocellular carcinoma,... |
ORPHA:2137 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... |
ORPHA:261529 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy |
OMIM:618999 |
Shigellosis |
|
Conjunctivitis, Intestinal perforation, Bloody diarrhea, Vomiting, Myocarditis, Hepatic failure, ... |
ORPHA:810 |
Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Otitis media, Recurren... |
ORPHA:2686 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Eczema, Myositis, Abnormal intestine morphology, Gastritis, Col... |
ORPHA:37042 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation of the large intestine, Psoriasi... |
ORPHA:324964 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Ulcerative colitis, Anal fissure, Eczema, Recur... |
OMIM:618935 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Amoebiasis Due To Entamoeba Histolytica |
|
Bloody diarrhea, Diarrhea, Abdominal pain, Protracted diarrhea, Constrictive pericarditis, Gastro... |
ORPHA:67 |
Zygomycosis |
|
Diarrhea, Fasciitis, Pericarditis, Gastritis, Hematological neoplasm, Colitis, Hematemesis, Unusu... |
ORPHA:73263 |
Immunodeficiency 97 With Autoinflammation |
|
Enterocolitis, Diarrhea, Abdominal pain, Eczema, Recurrent otitis media, Colitis, Recurrent skin ... |
OMIM:619802 |
Sweet Syndrome |
|
Acute myeloid leukemia, Breast carcinoma, Oligoarthritis, Chronic lymphatic leukemia, Acne invers... |
ORPHA:3243 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Colitis, Bronchiectasis, Chronic diarrhea |
OMIM:301220 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Bronchiectasis, Cholesteatoma, Bowel irritability, Gastritis, Colitis, Recurrent skin i... |
OMIM:619381 |
Iga Pemphigus |
|
Pustule, Ulcerative colitis, Neutrophilic infiltration of the skin, Cutaneous abscess |
ORPHA:555905 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Bloody diarrhea, Vomiting, Diarrhea, Intussusception, Abdominal pain, Per... |
ORPHA:90038 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Esophageal stricture, Abnormality of the anus, Periodontitis, Squamous cell carci... |
ORPHA:2908 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Erythroderma, Skin rash, Colitis, Decreased liver function, Infectious encephalitis, Maculopapula... |
ORPHA:540 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Parathyroid adenoma, Adenoma sebaceum, Diarrhea, Pituitary adenoma, Prolactinoma, I... |
OMIM:131100 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Pancreatitis, Colitis |
OMIM:615947 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Abdominal pain, Keratoconjunctivitis sicca, Abdominal distention, Steatorrhea, Colitis,... |
ORPHA:309031 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Gastritis, Panniculitis, Coli... |
ORPHA:3261 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Episodic vomiting, Hematemesis, Esophagitis, Feeding difficulties, Hiatu... |
ORPHA:71272 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation |
OMIM:110100 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Skin rash, Inflammation of the large intestine, Colonic eosinophilia, Recurrent ... |
OMIM:617718 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Esophageal varix, Inflammation of the large intestine, Chronic diarrhea |
OMIM:614576 |
Reactive Arthritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Diarrhea, Enthesitis, Arthritis, Ab... |
ORPHA:29207 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, Diarrhea, Bronchiectasis, Oropharyngeal squamous cell carcinoma, Villous atrophy, ... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
|
Vomiting, Chronic diarrhea, Myelodysplasia, Malabsorption, Feeding difficulties in infancy, Arthr... |
ORPHA:3260 |
Sepsis In Premature Infants |
|
Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdomina... |
ORPHA:90051 |
Zollinger-Ellison Syndrome |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... |
ORPHA:913 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Erythroderma, Abdominal pain, Eczema, Inflammation of the large intestine, Chronic... |
OMIM:615895 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Bloody diarrhea, Intestinal perforation, Vomiting, Diarrhea, Myocarditis, Intus... |
ORPHA:544482 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancolitis, Anoper... |
OMIM:618213 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Absent uvula, Dysphagia, Rectovaginal fistul... |
OMIM:619708 |
Wiskott-Aldrich Syndrome |
|
Lymphoma, Conjunctivitis, Blepharitis, Arthritis, Eczema, Inflammation of the large intestine, Ne... |
ORPHA:906 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enterocolitis, Diarrhea, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative colitis... |
ORPHA:79259 |
Syndromic Diarrhea |
|
Bloody diarrhea, Dependency on intravenous nutrition, Villous atrophy, Intractable diarrhea, Hepa... |
ORPHA:84064 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Intestinal perforation, Bloody diarrhea, Vomiting, Abdominal pain, ... |
ORPHA:90068 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Ulcerative colitis, Infla... |
ORPHA:562639 |
Plague |
|
Lymphadenitis, Endocarditis, Bloody diarrhea, Vomiting, Enterocolitis, Diarrhea, Erythema nodosum... |
ORPHA:707 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Pancreatitis, Protuberant ab... |
OMIM:232220 |
Primary Sclerosing Cholangitis |
|
Adenocarcinoma of the large intestine, Hepatitis, Abdominal pain, Thyroiditis, Cholangiocarcinoma... |
ORPHA:171 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... |
OMIM:232240 |
Wiskott-Aldrich Syndrome |
|
Diarrhea, Recurrent sinusitis, Eczema, Ulcerative colitis, Recurrent otitis media, Inflammation o... |
OMIM:301000 |
X-Linked Lymphoproliferative Disease |
|
Burkitt lymphoma, Hepatic failure, Fulminant hepatitis, Nephritis, Inflammation of the large inte... |
ORPHA:2442 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea |
ORPHA:91 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Perianal dermati... |
OMIM:619573 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H... |
ORPHA:572333 |
Frontometaphyseal Dysplasia 2 |
|
Gastroesophageal reflux, High palate, Feeding difficulties in infancy, Pyloric stenosis, Bifid uv... |
OMIM:617137 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Neoplasm, Osteomyelitis, Myeloproliferative disorder |
ORPHA:70591 |
Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Iridocyclitis, Arthritis, Uveitis, Inflammation of the large intestine, Anorexia,... |
OMIM:181000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, High palate, Thyroiditis, Melanoma, Recurrent otitis media, Celiac disease, Infla... |
ORPHA:99413 |
Turner Syndrome |
|
Gonadoblastoma, High palate, Thyroiditis, Melanoma, Recurrent otitis media, Celiac disease, Infla... |
ORPHA:881 |
Mosaic Monosomy X |
|
Gonadoblastoma, High palate, Thyroiditis, Melanoma, Recurrent otitis media, Celiac disease, Infla... |
ORPHA:99228 |
Monosomy X |
|
Gonadoblastoma, High palate, Thyroiditis, Melanoma, Recurrent otitis media, Celiac disease, Infla... |
ORPHA:99226 |
Mowat-Wilson Syndrome |
|
Vomiting, Enterocolitis, Dependency on intravenous nutrition, Aganglionic megacolon, Pyloric sten... |
ORPHA:2152 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
|
OMIM:618522 |