Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Xeroderma Pigmentosum, Complementation Group G |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Xeroderma Pigmentosum, Complementation Group F |
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Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... |
OMIM:278760 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Xeroderma Pigmentosum, Complementation Group E |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... |
OMIM:278740 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... |
OMIM:278720 |
Fanconi Anemia, Complementation Group D2 |
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Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Deficient excision of UV... |
OMIM:227646 |
Barrett Esophagus |
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Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Xeroderma Pigmentosum, Complementation Group A |
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Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... |
OMIM:278700 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Tracheobronchial leiomyomatosis, Esophageal stenosis, Diffuse leiomyomatosis, Vaginal neoplasm, V... |
ORPHA:1018 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:600901 |
Xeroderma Pigmentosum, Complementation Group D |
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Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227650 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Dysphagia, Abn... |
OMIM:226600 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227645 |
Trichothiodystrophy |
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High, narrow palate, Defective DNA repair after ultraviolet radiation damage, Squamous cell carci... |
ORPHA:33364 |
De Sanctis-Cacchione Syndrome |
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Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Xfe Progeroid Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Noonan Syndrome 7 |
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Impaired oropharyngeal swallow response, Lentigo maligna melanoma, Abnormal esophagus morphology,... |
OMIM:613706 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Esophageal stenosis, Anal fissure, Esophageal stricture, Squamous cell carcinoma, Gastroesophagea... |
ORPHA:89842 |
Bronchogenic Cyst |
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Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Benign Schwannoma |
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Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Aspergillosis |
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Abnormal esophagus morphology, Hematological neoplasm |
ORPHA:1163 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Chronic Graft Versus Host Disease |
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Esophageal stricture, Xerostomia, Abnormal esophagus morphology, Gastroesophageal reflux, Dysphag... |
ORPHA:99921 |