Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Chronic infection, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the... |
ORPHA:1183 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent abscess formation, Verrucae, Recurrent lowe... |
OMIM:613860 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... |
ORPHA:480536 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova... |
ORPHA:157798 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia |
OMIM:610738 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B-cell lymphoma, Persistent EBV viremia |
OMIM:619437 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Abnormality of fema... |
OMIM:193670 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphoproliferative disorder, Recurrent viral infections, Recurrent upper respiratory tract infec... |
OMIM:614868 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections |
OMIM:616873 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... |
ORPHA:314478 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Recurrent pneumonia, Recurrent bacterial infections, Neoplasm, Recurrent sinusitis, Rec... |
OMIM:240500 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm |
ORPHA:2221 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Acute monocytic leukemia |
OMIM:202700 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Squamous cel... |
OMIM:243700 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Neoplasm of the lung, Neoplasm, Sarcoma |
ORPHA:662 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Ovarian gonadoblastoma |
OMIM:136680 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Myelodysplasia, Recurrent viral infec... |
ORPHA:486 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Cowden Syndrome 1 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... |
OMIM:158350 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Testicular Germ Cell Tumor |
|
Choriocarcinoma, Azoospermia, Teratoma, Embryonal neoplasm |
OMIM:273300 |
Immunodeficiency 21 |
|
Myelodysplasia, Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium ... |
OMIM:614172 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Sepsis, Desmoid tumors |
ORPHA:873 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Fanconi Anemia, Complementation Group S |
|
Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Lymphoproliferative disorder, Severe recur... |
ORPHA:276 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Spinal cord tumor, Ovarian neoplasm... |
ORPHA:370348 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, B-cell lymphoma, Recurrent upper respiratory tract infections, Persistent... |
OMIM:616005 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Lymphoproliferative disorder, Recurrent viral infections, Re... |
ORPHA:911 |
Specific Granule Deficiency 2 |
|
Myelodysplasia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media |
OMIM:617475 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Milroy Disease |
|
Hydrocele testis, Neoplasm of the skin, Angiosarcoma |
ORPHA:79452 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... |
ORPHA:183675 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal hamartoma, Ependymoma, Gingival... |
OMIM:613254 |
Teratoma, Pineal |
|
Teratoma |
OMIM:273120 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Recurrent pneumonia |
OMIM:619750 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Aplasia of... |
ORPHA:83471 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection... |
OMIM:613179 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Familial Pancreatic Carcinoma |
|
Melanoma, Pancreatic adenocarcinoma, Ovarian carcinoma, Breast carcinoma |
ORPHA:1333 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis |
OMIM:612692 |
Chromomycosis |
|
Recurrent bacterial infections, Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Meige Disease |
|
Angiosarcoma, Recurrent bacterial skin infections |
ORPHA:90186 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Gonadal neoplasm, Micropenis, Meningioma, Sarcoma |
ORPHA:96123 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu... |
ORPHA:98813 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607594 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... |
ORPHA:201 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Precocious puberty, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, ... |
ORPHA:636 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar... |
ORPHA:1018 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Recurrent urinary tract infections |
ORPHA:33001 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcinoid, Adenocarcinoma of the... |
ORPHA:100079 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Myelodysplasia, ... |
OMIM:617053 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Immunodeficiency 27B |
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Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Immunodeficiency, Common Variable, 6 |
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Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613496 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Recurrent bacterial infections |
OMIM:606843 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Adult Idiopathic Neutropenia |
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Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
Immunodeficiency 23 |
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Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Lymphoma, Meningitis |
ORPHA:36412 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Apert Syndrome |
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Ovarian neoplasm |
ORPHA:87 |
Pyomyositis |
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Recurrent cutaneous abscess formation, Recurrent infections, Sepsis, Testicular teratoma |
ORPHA:764 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Osteogenic Sarcoma |
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Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... |
OMIM:610644 |
Fibular Dimelia-Diplopodia Syndrome |
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Sacrococcygeal teratoma |
ORPHA:1757 |
Pgm3-Cdg |
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Recurrent respiratory infections, Recurrent viral infections, Lymphoma, Recurrent pneumonia, Seps... |
ORPHA:443811 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections |
ORPHA:86788 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Aplasia of the thymus, B-cell lymphoma, Recurrent viral infections, Recurrent pneumonia, Chronic ... |
OMIM:102700 |
Neutropenia, Severe Congenital, X-Linked |
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Recurrent bacterial infections |
OMIM:300299 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Enlarged poly... |
ORPHA:744 |
Complement Factor I Deficiency |
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Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Complement Component 5 Deficiency |
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Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra... |
OMIM:308230 |
Atypical Werner Syndrome |
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Renal neoplasm, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm of the breast, Neo... |
ORPHA:79474 |
Aicardi Syndrome |
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Precocious puberty, Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic ... |
OMIM:304050 |
Leukocyte Adhesion Deficiency, Type I |
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Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
Shwachman-Diamond Syndrome |
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Acute myeloid leukemia, Decreased response to growth hormone stimulation test, Myelodysplasia, Re... |
ORPHA:811 |
Endometrial Cancer |
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Endometrial carcinoma |
OMIM:608089 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
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 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased response to grow... |
ORPHA:273 |
Tuberous Sclerosis Complex |
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Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... |
OMIM:241410 |
Immunodeficiency 12 |
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Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
Idiopathic Bronchiectasis |
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Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Multiple Endocrine Neoplasia Type 1 |
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Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Recurrent staphylococcal infections, ... |
ORPHA:2968 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections, Congenital hypoparathyroidism |
OMIM:244460 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:221139 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent viral infections, Sepsis, Hodgkin lymphoma, Persistent EBV viremia, Severe cytomegalovi... |
OMIM:619573 |
Omenn Syndrome |
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Recurrent fungal infections, Recurrent bacterial infections, Hypoplasia of the thymus, Recurrent ... |
OMIM:603554 |
Duplication Of The Pituitary Gland |
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Teratoma, Abnormal pituitary gland morphology |
ORPHA:314621 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchi... |
OMIM:612541 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections, Polycystic ovaries |
ORPHA:2176 |
Agammaglobulinemia 9, Autosomal Recessive |
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Recurrent bacterial infections |
OMIM:619693 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... |
OMIM:608233 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum, Aplasia ... |
OMIM:300291 |
Schinzel-Giedion Midface Retraction Syndrome |
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Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... |
OMIM:269150 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
Postinfectious Vasculitis |
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Persistent human papillomavirus infection, Orchitis, Severe varicella zoster infection, Invasive ... |
ORPHA:48435 |
Vici Syndrome |
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Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Primary Ciliary Dyskinesia |
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Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Ependymoma, Annular pancreas,... |
ORPHA:798 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Primary Sclerosing Cholangitis |
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Adenocarcinoma of the large intestine, Recurrent systemic pyogenic infections, Cholelithiasis, Ne... |
ORPHA:171 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Sickle Cell Disease |
|
Cholelithiasis, Recurrent bacterial infections |
OMIM:603903 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Absent vas deferens, Recurren... |
ORPHA:586 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Pancreatic fibrosis |
OMIM:232220 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Polycystic ovaries |
ORPHA:79259 |
Split Cord Malformation |
|
Hypospadias, Spinal cord tumor, Capillary hemangioma, Lipoma, Teratoma |
ORPHA:573278 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Decreased response to growth hormone stimulation test |
ORPHA:470 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cryptorchidism, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infec... |
ORPHA:2273 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections |
ORPHA:642 |