Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... |
OMIM:616022 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... |
OMIM:618986 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis, Vaginal mucosal ulceration |
OMIM:618287 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Chondrocalcinosis 2 |
|
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis |
OMIM:118600 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Adenomyosis |
|
Adenomyosis |
OMIM:600458 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
Immunodeficiency 32A |
|
Lymphadenopathy, Recurrent infections |
OMIM:614893 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... |
OMIM:615978 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Chorioretinal scar, Protein-losin... |
OMIM:277175 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... |
OMIM:132900 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Atherosclerosis, Myocarditis |
ORPHA:2724 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Hypercholesterolemia, Familial, 4 |
|
Atherosclerosis |
OMIM:603813 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Optic... |
OMIM:618889 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Hematochezia, Thrombocytopenia, Osteolysis, Gastrointestinal hemorrhage, Abnormal lung mo... |
ORPHA:464321 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Persistent EBV viremia, Decreased proportion of class... |
OMIM:619126 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Kerion Celsi |
|
Recurrent skin infections, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent cutan... |
ORPHA:499 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Immunodeficiency 104 |
|
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... |
OMIM:608971 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Ocular albinism, Bruising susceptibility, Abdominal pain, Hypopigmentation of the skin, ... |
OMIM:203300 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... |
OMIM:619220 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Hyperlipoproteinemia, Type Iv |
|
Precocious atherosclerosis |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Precocious atherosclerosis |
OMIM:145750 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... |
ORPHA:494424 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia |
OMIM:300299 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Hepatomegaly, Foll... |
OMIM:300635 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Bicornuate uterus, Cleft palate |
OMIM:258320 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly, Pigmentary retinopathy |
OMIM:609016 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Omphalocele, Bloody diarrhea, Colonic atresia, Jejunal atresia, Recurrent respirato... |
OMIM:243150 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis |
ORPHA:50809 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Type IV atherosclerotic lesion |
OMIM:144300 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Anal fissure, S... |
ORPHA:209964 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233710 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis |
OMIM:216950 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... |
ORPHA:228302 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Reduced left ventricular ejection fraction, Increased inflammatory response, ... |
ORPHA:542323 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Abnormality of retinal pigmentation, Multiple lipomas, Emphysema, Pneumo... |
ORPHA:122 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... |
OMIM:136300 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pa... |
OMIM:615846 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... |
ORPHA:276 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Omenn Syndrome |
|
Recurrent fungal infections, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymph... |
OMIM:603554 |
Autosomal Agammaglobulinemia |
|
Sepsis, Diarrhea, Malabsorption, Osteomyelitis, Fever, Cellulitis, Dehydration, Arthritis, Hepati... |
ORPHA:33110 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... |
OMIM:607624 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... |
OMIM:242850 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233690 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Osteopetrosis, Anemia, Optic atrophy, Facial pa... |
OMIM:615085 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hypothermia, Hepatomegaly, Micronodular cirrhosis, Pe... |
OMIM:251880 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Ataxia, Type II diabetes mellitus, Giant cell hepatitis, Cholestatic liver diseas... |
ORPHA:79095 |
Sea-Blue Histiocyte Disease |
|
Foam cells |
OMIM:269600 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... |
OMIM:209920 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Otitis media, Diarrhea, Pneumonia, Erythroderma, Failure to thrive secondary to recurrent infecti... |
ORPHA:169160 |
X-Linked Agammaglobulinemia |
|
Sepsis, Abnormality of the tonsils, Abnormal lung morphology, Weight loss, Malabsorption, Osteomy... |
ORPHA:47 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Eosinophilic Gastroenteritis |
|
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... |
ORPHA:2070 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Fish-Eye Disease |
|
Angina pectoris, Atherosclerosis |
ORPHA:79292 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Nephronophthisis |
|
Anemia, Abnormality of retinal pigmentation |
ORPHA:655 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Bowel urgency, Bloody diarrhea, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Bowel urgency, Bloody diarrhea, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... |
ORPHA:100082 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... |
OMIM:105835 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Eczema, Cholestasis, Hematochezia, Erythroderma, Recurrent fever, Sp... |
OMIM:615895 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ... |
OMIM:243700 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis, Atherosclerosis |
ORPHA:425 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Premature coronary artery atherosclerosis, Myocardial infarction, Precocious ath... |
OMIM:176670 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia, Recurrent infections |
OMIM:615387 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Renal tubular epithelial necrosis, Acute kidney injury, Uric acid nephrolithiasis |
OMIM:220150 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, Decreased circu... |
OMIM:308230 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... |
OMIM:618048 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Hepatospleno... |
OMIM:612840 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephriti... |
ORPHA:157 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
African Iron Overload |
|
Increased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Hepatic bridg... |
ORPHA:139507 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hepatic failure, Sepsis, Cholestasis, Myocarditis, Hypothermia, Fever, Abno... |
ORPHA:292 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Kienbock Disease |
|
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans |
ORPHA:97332 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Foam cells |
OMIM:245900 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Episodic respiratory distress, Pulmonary edema, Hematuria, Tachypnea, ... |
ORPHA:31826 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Carcinoid Syndrome |
|
Increased serum serotonin, Intestinal carcinoid, Heart murmur, Facial telangiectasia, Rhinorrhea,... |
ORPHA:100093 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Coronary artery atherosclerosis, Myocardial infarction, Hypertension, Accelerated atherosclerosis |
OMIM:618620 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Sepsis, Eczema, Sudden cardiac death, Hematochezia, Spontaneous hematoma... |
ORPHA:906 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Recurrent respiratory infections, Pigmentary retinopathy, Rod-cone dy... |
OMIM:312612 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... |
ORPHA:331206 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Increased circulating free fatty acid level, Prolonged QT interval, Increased... |
ORPHA:71212 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... |
OMIM:618261 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis |
OMIM:610842 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Vomiting, Pneumonia, Increased circulating free fatty acid le... |
ORPHA:26793 |
Purine Nucleoside Phosphorylase Deficiency |
|
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Tremor, Pneumonia, Re... |
OMIM:613179 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... |
ORPHA:228308 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Respiratory distress, Gastritis, Sepsis, Eczema, Decreased prealbumin ... |
ORPHA:37042 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis... |
OMIM:611490 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Abnormal ... |
OMIM:231100 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Decreased circulating T4 concentration, Constipation, Facial edema, Delayed proximal... |
ORPHA:95717 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Sepsis, Diarrhea, Vo... |
ORPHA:454836 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hypertrop... |
ORPHA:330001 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... |
ORPHA:95716 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrophy, Cong... |
ORPHA:3156 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinom... |
OMIM:613244 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Cap Polyposis |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Diarrhea, Vomiting, Elevated circulating creatinine concentration, ... |
ORPHA:340 |
Shwachman-Diamond Syndrome |
|
Eczema, Sepsis, Aplastic anemia, Macrocytic anemia, Pneumonia, Pancytopenia, Bone marrow hypocell... |
ORPHA:811 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Hypothermia, Decreased circulating T4 conc... |
ORPHA:226313 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:140905 |
Aspergillosis |
|
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... |
ORPHA:1163 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... |
OMIM:619693 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegal... |
OMIM:269840 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sepsis, Abscess, Diarrhea, Vomiting, Myocarditis, Severe viral infection, E... |
ORPHA:36234 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Neutrophilia, Myocarditis, B... |
ORPHA:829 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia, Feeding difficulties, Respiratory insufficiency, Hypertaurinemia,... |
OMIM:245400 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Ga... |
OMIM:613385 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Legionnaires Disease |
|
Ataxia, Pancreatitis, Sepsis, Diarrhea, Abnormal pleura morphology, Myocarditis, Bone marrow hypo... |
ORPHA:549 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Ureteral obstruction, Urinary retention, Pneumonia, Respiratory failure, Ap... |
ORPHA:79404 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... |
OMIM:607271 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Moyamoya Disease 1 |
|
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy |
OMIM:252350 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... |
OMIM:618534 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Decreased circulating IgA level, Decreased circulating IgG level, He... |
ORPHA:79330 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Hepatomegaly, Pancreatitis, Acr... |
ORPHA:280365 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... |
ORPHA:57777 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Pulmonary edema, Sepsis, Cyanosis, Tachycardia, Hypotension, Tachypnea, Pneumonia... |
ORPHA:70587 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Lipodystrophy, Hypogonadism, Weight loss, Sclerosi... |
ORPHA:2905 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Diarrhea, Pedal edema, Esophageal varix, Weight loss, Poor appetite, Jaundice, Feve... |
ORPHA:88673 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Schnitzler Syndrome |
|
Fever, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Vascu... |
ORPHA:37748 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... |
OMIM:618935 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Diarrhea, Vomiting, Increased circulating antibody level, Fev... |
ORPHA:79139 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Hematochezia, Perianal abscess |
OMIM:613148 |
Aortic Aneurysm, Familial Thoracic 8 |
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Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
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Pigmentary retinopathy, Feeding difficulties |
OMIM:617613 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... |
OMIM:612783 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Apnea, Ataxia, Hepatomegaly, Diarrhea, Hyperuricemia, Weight loss, Cardiac arrest, Jaundice, Hypo... |
ORPHA:20 |
Stargardt Disease |
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Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Complement Factor H Deficiency |
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Recurrent bacterial infections |
OMIM:609814 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... |
OMIM:601495 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... |
OMIM:614493 |
Tangier Disease |
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Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis |
OMIM:205400 |
Progressive Bifocal Chorioretinal Atrophy |
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Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Gm1-Gangliosidosis, Type Iii |
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Foam cells |
OMIM:230650 |
Blue Cone Monochromatism |
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Abnormality of retinal pigmentation |
ORPHA:16 |
Alpha-Thalassemia |
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Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Severe Combined Immunodeficiency, X-Linked |
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Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... |
OMIM:300400 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Abdominal pain, Anorexia, Diarrhea, Xerostomia, Vomiting, Hematochezia, Protein-lo... |
OMIM:175500 |
Graft Versus Host Disease |
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Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... |
ORPHA:39812 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 11 |
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Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Retinitis Pigmentosa 76 |
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Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Autosomal Dominant Severe Congenital Neutropenia |
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Periodontitis, Lymphopenia, Rhinitis, Recurrent infection of the gastrointestinal tract, Recurren... |
ORPHA:486 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Marburg Hemorrhagic Fever |
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Odynophagia, Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Uveitis, Elevated circula... |
ORPHA:99826 |
Enterocolitis |
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Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Morbid Obesity And Spermatogenic Failure |
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Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension, Congestive heart ... |
OMIM:615703 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract in... |
OMIM:613101 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hepatic failure, Ele... |
ORPHA:159 |
Immunodeficiency 102 |
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Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Desmoid Tumor |
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Malabsorption, Abnormality of retinal pigmentation, Abdominal pain, Desmoid tumors, Intestinal ob... |
ORPHA:873 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Polyposis Syndrome, Hereditary Mixed, 2 |
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Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Panbronchiolitis, Diffuse |
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Foam cells |
OMIM:604809 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, T lymphoc... |
OMIM:601457 |
Retinitis Pigmentosa 61 |
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Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Hypomelia With Mullerian Duct Anomalies |
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Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating acylcarnitine concentration, Inability to walk, Hepatomegaly, Vomiting, Resp... |
ORPHA:26791 |
Central Retinal Vein Occlusion |
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Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Increased p... |
OMIM:615559 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Osteopenia, Cholestasis, Chronic ... |
ORPHA:171 |
Pseudoxanthoma Elasticum |
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Angina pectoris, Intermittent claudication, Mitral stenosis, Stroke, Restrictive cardiomyopathy, ... |
OMIM:264800 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation, Fever, Neoplasm o... |
ORPHA:2126 |
Igg4-Related Retroperitoneal Fibrosis |
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Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Premature arteriosclerosis, Peripheral arterial stenosis, Abnormal left ventricu... |
ORPHA:391665 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... |
OMIM:264470 |
Achromatopsia |
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Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Scorpion Envenomation |
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Ataxia, Diarrhea, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Myoc... |
ORPHA:466677 |
Retinitis Pigmentosa 40 |
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Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Felty Syndrome |
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Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Systemic Capillary Leak Syndrome |
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Pulmonary edema, Pancreatitis, Leukocytosis, Abdominal pain, Diarrhea, Arrhythmia, Myocarditis, P... |
ORPHA:188 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Abnormal cardiovascula... |
ORPHA:289601 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Recurrent fractures, Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Craniosynosto... |
OMIM:147060 |
Bietti Crystalline Dystrophy |
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Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis |
ORPHA:230839 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Gaucher Disease Type 1 |
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Hepatomegaly, Osteopenia, Osteolysis, Pedal edema, Pancytopenia, Increased circulating antibody l... |
ORPHA:77259 |
Q Fever |
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Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Weight loss,... |
ORPHA:781 |
Immunodeficiency 76 |
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Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... |
OMIM:619164 |
Akt2-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... |
ORPHA:79085 |
Cidec-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... |
ORPHA:435651 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Late-Onset Isolated Acth Deficiency |
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Graves disease, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Seps... |
ORPHA:199299 |
Fanconi Renotubular Syndrome 5 |
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Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Decreased DLCO, Prot... |
OMIM:618913 |
Sickle Cell Anemia |
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Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Retinitis Pigmentosa 37 |
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Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... |
ORPHA:70589 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
Niemann-Pick Disease, Type B |
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Bone-marrow foam cells, Foam cells with lamellar inclusion bodies |
OMIM:607616 |
Retinitis Pigmentosa 90 |
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Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Retinitis Pigmentosa 7 |
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Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
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