| Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
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 Neisserial infections, Recurrent meningococcal disease |
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, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... |
OMIM:613953 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... |
OMIM:605258 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect... |
OMIM:608106 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent abscess formation... |
OMIM:260570 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
| Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... |
OMIM:615978 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:613502 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Premature graying of hair, Hematochezia, Protei... |
OMIM:277175 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... |
OMIM:240500 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Hypercholesterolemia, Familial, 4 |
|
Atherosclerosis |
OMIM:603813 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Atherosclerosis |
ORPHA:2724 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym... |
OMIM:619126 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Intestinal perforation, Abnormal lung morphology, Osteolysis involving bones of the upper limbs, ... |
ORPHA:464321 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... |
ORPHA:229 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:612692 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Immunodeficiency 104 |
|
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Aplastic anemia, Pan... |
OMIM:300635 |
| Hypertriglyceridemia 1 |
|
Precocious atherosclerosis |
OMIM:145750 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent ear infections, S... |
OMIM:615513 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albi... |
OMIM:203300 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, A... |
ORPHA:911 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Hashimoto thyroiditis, Recurrent viral infections, Recurrent mycobacterial infections,... |
ORPHA:275 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis... |
OMIM:243150 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... |
ORPHA:73263 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... |
ORPHA:70578 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Type IV atherosclerotic lesion |
OMIM:144300 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233710 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Poor appetite, Heart block, Tachypnea, Increas... |
ORPHA:542323 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis |
ORPHA:79506 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Dehydration, Conjunctivitis, Neutropenia, Cough, Chronic otitis media, Meningi... |
ORPHA:33110 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chronic constipat... |
ORPHA:209964 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Pneumothorax, Multiple lipomas, Pulmonary sequestration, Emp... |
ORPHA:122 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Edema, Bloody diarrhea, Hepatic steatosis, Hypot... |
OMIM:615846 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... |
OMIM:607624 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ... |
OMIM:212050 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233690 |
| Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Sepsis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic o... |
ORPHA:47 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent tonsillitis, Membranoproliferative glomerulonephritis, ... |
OMIM:613779 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... |
ORPHA:251380 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... |
ORPHA:169160 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:610947 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation, Anemia |
ORPHA:655 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
| Sea-Blue Histiocyte Disease |
|
Foam cells |
OMIM:269600 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
| Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Rod-cone dystrophy, Recurrent bronchitis |
OMIM:300455 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... |
OMIM:243700 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urg... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urg... |
ORPHA:100082 |
| Fish-Eye Disease |
|
Angina pectoris, Atherosclerosis |
ORPHA:79292 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... |
OMIM:615895 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:425 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
| Dietary Iron Overload Disease |
|
Hepatic fibrosis, Elevated hepatic iron concentration, Hepatic steatosis, Hepatomegaly, Chronic i... |
ORPHA:139507 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
| Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... |
OMIM:613244 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction |
OMIM:618620 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Abno... |
OMIM:612840 |
| Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, H... |
ORPHA:97282 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
| Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Skin rash |
OMIM:619175 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly,... |
OMIM:226990 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Carcinoid Syndrome |
|
Lack of bowel sounds, Hepatic necrosis, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Tric... |
ORPHA:100093 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Polyhydramnios, Fetal ascites, Sepsis, Hydrops fetalis, Leukopenia, Hypoalb... |
ORPHA:292 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis,... |
ORPHA:31826 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Feeding difficulties in infancy, Facial edema, Delayed proximal femoral epiphyseal o... |
ORPHA:95717 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... |
ORPHA:71212 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Iro... |
ORPHA:37042 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Lymphadenopathy, Dec... |
OMIM:618261 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Feeding difficulties, ... |
OMIM:615085 |
| Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis |
OMIM:610842 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, O... |
OMIM:613179 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... |
ORPHA:228308 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach |
OMIM:114500 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... |
ORPHA:26793 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Foam cells |
OMIM:245900 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Retinitis Pigmentosa 6 |
|
Recurrent respiratory infections, Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degen... |
OMIM:312612 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Hemochromatosis, Neonatal |
|
Abnormal bleeding, Hypoglycemia, Nonimmune hydrops fetalis, Increased circulating ferritin concen... |
OMIM:231100 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Abnormal left ventricular function,... |
OMIM:619991 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Immunodeficiency 32A |
|
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma |
OMIM:614893 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Feeding difficulties in infancy, Hepatocellular necrosis, Hypoalbuminemia, Vomiting, Hepatic stea... |
OMIM:251880 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... |
ORPHA:330001 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Hepatomegaly, Reticulocytosis, Increased bone mineral density, Facial palsy, P... |
OMIM:611490 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Hypothermia, Large for gestational age, Feeding difficulties in infancy, Ab... |
ORPHA:226313 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
| Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Neutropenia, Cough, Infectious encephalitis, Meningitis, Chro... |
ORPHA:1163 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Recurrent herpes, Complete o... |
OMIM:607271 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... |
ORPHA:340 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma |
OMIM:612591 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis, Hypertension... |
ORPHA:3156 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
| High Altitude Pulmonary Edema |
|
Fever, Orthopnea, Nausea and vomiting, Cyanosis, Tachycardia, Crackles, Anorexia, Dyspnea, Leukoc... |
ORPHA:330012 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Renal cyst, Squamous cell carcinoma, Aplasia/Hypoplasia... |
ORPHA:79404 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:245400 |
| Adult-Onset Still Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Meningitis, H... |
ORPHA:829 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Porta... |
OMIM:613385 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
| Legionnaires Disease |
|
Anorexia, Abnormal lung morphology, Sepsis, Cough, Infectious encephalitis, Hyponatremia, Ataxia,... |
ORPHA:549 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:140905 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... |
OMIM:256810 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... |
OMIM:613496 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Left ventricular hyp... |
ORPHA:79330 |
| Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... |
ORPHA:2298 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hy... |
ORPHA:171 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... |
ORPHA:57777 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Pneumonia, Bronchitis, Cardiomegaly, Hypothermia, Patent duc... |
OMIM:601005 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Stiff inter... |
ORPHA:39812 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Anorexia, Edema, Tachypnea, Dehydration, Leukopenia, Recurrent hypoglycemia, Hepatomegaly,... |
ORPHA:20 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom... |
ORPHA:280365 |
| Schnitzler Syndrome |
|
Fever, Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vascu... |
ORPHA:37748 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Persistent EBV viremia, ... |
OMIM:620282 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Japanese Encephalitis |
|
Respiratory distress, Stiff neck, Anorexia, Choreoathetosis, Respiratory paralysis, Vomiting, Men... |
ORPHA:79139 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Poems Syndrome |
|
Sclerosis of hand bone, Edema, Acrocyanosis, Polycythemia, Hypothyroidism, Sclerosis of foot bone... |
ORPHA:2905 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Elevated circulating th... |
OMIM:618183 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... |
OMIM:612783 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Anemia, H... |
OMIM:175500 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Vomiting, Hepatomegaly, Elevated circulating ... |
ORPHA:26791 |
| Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... |
OMIM:615703 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Osteoporosis, Pigmentary ... |
OMIM:618234 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Feeding difficulties |
OMIM:617613 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... |
OMIM:301082 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Hypothermia, Elevat... |
ORPHA:159 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Panbronchiolitis, Diffuse |
|
Foam cells |
OMIM:604809 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:613101 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Odynophagia, U... |
ORPHA:99826 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Sepsis, Low-grade fever, Hashi... |
ORPHA:199299 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Enterocolitis, Crohn's disease |
OMIM:613148 |
| Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatom... |
ORPHA:77259 |
| Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... |
OMIM:240900 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Lympha... |
OMIM:617718 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... |
OMIM:147060 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Hypoglycemia, Reduced C-peptide level, Weight loss, Neopla... |
ORPHA:2126 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory ... |
ORPHA:188 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Intestinal obstruction, Intesti... |
ORPHA:873 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Malignant hyperthermia, Vomitin... |
OMIM:614921 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
|
