Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Tuftsin Deficiency |
|
Recurrent infections |
OMIM:191150 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Pruritus, Weight loss, Ar... |
ORPHA:324964 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Epidermolysis Bullosa Acquisita |
|
Pruritus, Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... |
ORPHA:793 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Linear Iga Dermatosis |
|
Pruritus, Inflammation of the large intestine |
ORPHA:46488 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 10 |
|
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... |
OMIM:615577 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Psoriasis 2 |
|
Psoriasiform dermatitis |
OMIM:602723 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:617765 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Chronic diarrhea,... |
OMIM:606367 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s... |
OMIM:613960 |
Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia |
OMIM:618969 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... |
ORPHA:436252 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
Lig4 Syndrome |
|
Psoriasiform dermatitis, Small for gestational age, Cryptorchidism, Failure to thrive, Chronic si... |
OMIM:606593 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis |
OMIM:612692 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... |
OMIM:616050 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis, Dysphagia |
ORPHA:458803 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... |
OMIM:618999 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Hypercholanemia, Familial 1 |
|
Pruritus, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Intermediate Uveitis |
|
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis |
ORPHA:279914 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Arthritis,... |
OMIM:301074 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, A... |
ORPHA:49041 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Immunodeficiency 40 |
|
Rectal fistula, Recurrent pneumonia, Chronic diarrhea, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Pruritus, Pustule, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
H Syndrome |
|
Psoriasiform dermatitis, Malabsorption, Bronchiectasis, Azoospermia, Chronic rhinitis, Decreased ... |
ORPHA:168569 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Immunodeficiency 49 |
|
Psoriasiform dermatitis |
OMIM:617237 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Diarrhea, Arthritis, Gastroesophageal reflux, Chronic oral candidiasis, ... |
ORPHA:221139 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba... |
OMIM:243700 |
Pyoderma Gangrenosum |
|
Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... |
ORPHA:83471 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Recurrent pneumon... |
ORPHA:293978 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607594 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Cleft hard palate, Cle... |
ORPHA:69085 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Recurrent pneumonia, Chronic di... |
OMIM:614700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... |
ORPHA:98813 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613496 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... |
ORPHA:810 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Psoriasiform dermatitis, Cleft palate, Parathyroid hypoplasia |
ORPHA:2237 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
Amoebiasis Due To Entamoeba Histolytica |
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Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
Autoimmune Hepatitis |
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Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Zygomycosis |
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Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Familial Hemophagocytic Lymphohistiocytosis |
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Skin rash, Maculopapular exanthema, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Reactive Arthritis |
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Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... |
ORPHA:29207 |
Selective Igm Deficiency |
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Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Autosomal Dominant Severe Congenital Neutropenia |
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Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
Immunodeficiency 21 |
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Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Hyperlipoproteinemia, Type Id |
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Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Immunodeficiency 36 With Lymphoproliferation |
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Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... |
OMIM:616005 |
Sweet Syndrome |
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Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Immunodeficiency 12 |
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Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... |
ORPHA:309031 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic steno... |
ORPHA:90038 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection... |
OMIM:613179 |
Idiopathic Bronchiectasis |
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Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
Hermansky-Pudlak Syndrome 1 |
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Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Pruritus, Feeding diffi... |
ORPHA:3260 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Kindler Epidermolysis Bullosa |
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Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... |
ORPHA:331206 |
Congenital Disorder Of Glycosylation, Type Iil |
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Failure to thrive, Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra... |
OMIM:308230 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Pruritus, Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of ... |
ORPHA:562639 |
Thymoma |
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Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... |
ORPHA:99867 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
Sepsis In Premature Infants |
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Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
Omenn Syndrome |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Plague |
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Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... |
ORPHA:707 |
Sandifer Syndrome |
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Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Immunodeficiency 23 |
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Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections |
OMIM:244460 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Pancreatitis, Diarrhea, S... |
ORPHA:544482 |
Syndromic Diarrhea |
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Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, Hypoplasia of th... |
ORPHA:84064 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammat... |
ORPHA:79259 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Pgm3-Cdg |
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Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... |
ORPHA:443811 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Cocaine Intoxication |
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Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... |
OMIM:608233 |
Mirage Syndrome |
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Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis |
OMIM:617053 |
Wiskott-Aldrich Syndrome |
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Eczema, Hematemesis, Diarrhea, Recurrent pneumonia, Chronic diarrhea, Ulcerative colitis, Melena,... |
OMIM:301000 |
Glycogen Storage Disease Ib |
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Pancreatic fibrosis, Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellul... |
OMIM:232220 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac... |
OMIM:102700 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, High palate, Hepatic failure, Failure to thrive, Mitochondrial swelling |
OMIM:606812 |
Autoimmune Lymphoproliferative Syndrome |
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Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... |
OMIM:612541 |
Whim Syndrome |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... |
ORPHA:48435 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... |
OMIM:619573 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colit... |
OMIM:617137 |
Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, Arthriti... |
OMIM:181000 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis, Obesity |
ORPHA:70591 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi... |
ORPHA:2968 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... |
ORPHA:99413 |
Turner Syndrome |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... |
ORPHA:99226 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent viral infections |
ORPHA:811 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Mowat-Wilson Syndrome |
|
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... |
ORPHA:2152 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |