| 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 |
OMIM:613801 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Niemann-Pick Disease, Type B |
|
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells |
OMIM:607616 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Q Fever |
|
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... |
ORPHA:781 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis |
ORPHA:230839 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
| Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... |
OMIM:615468 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tachypnea, Vomiting, P... |
ORPHA:466677 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... |
ORPHA:289601 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Papilledema, Hyperpigmentation of the fundus, Abdominal pain, Epiretinal me... |
ORPHA:99818 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimm... |
OMIM:614470 |
| Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Tangier Disease |
|
Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis |
OMIM:205400 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:306400 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Diar... |
ORPHA:858 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
| Majeed Syndrome |
|
Edema, Flexion contracture, Cough, Hepatomegaly, Increased bone mineral density, Acne, Congenital... |
ORPHA:77297 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoim... |
ORPHA:391487 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Dysphagia, Diffuse hepatic steatosis, Rod-co... |
OMIM:264470 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... |
OMIM:201475 |
| Immunodeficiency 27A |
|
Fever, Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Spleno... |
OMIM:209950 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Griscelli Syndrome |
|
Fever, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis... |
ORPHA:381 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Hypo... |
ORPHA:90674 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho... |
OMIM:601457 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic stea... |
OMIM:613327 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Osteoarthrit... |
OMIM:600969 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... |
ORPHA:36238 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Respiratory insufficiency, Feeding diff... |
OMIM:618329 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Abnormality of neutrophils, Sepsis, Otitis media, Abnormal lymphocyte morphology, Meni... |
ORPHA:229717 |
| Gm1-Gangliosidosis, Type Iii |
|
Foam cells |
OMIM:230650 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... |
OMIM:616100 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
| Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Severe varicella zos... |
OMIM:615387 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
| Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation o... |
OMIM:614700 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Failure to t... |
OMIM:615207 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
| Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil... |
ORPHA:90062 |
| Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Prolonged prothrombin time, ... |
ORPHA:96168 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Prostate cancer, Primary peritoneal carcinoma, Ovarian neoplasm |
ORPHA:145 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Abnorma... |
ORPHA:391665 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
| Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Intestinal duplication, Uterus didelphys |
ORPHA:1756 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Edema, Goite... |
ORPHA:90673 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Recurrent respiratory infections, Elevated hepatic transaminase, Hepatome... |
ORPHA:17 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Tricuspid regurgi... |
ORPHA:75249 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Osteoporosis, Melanocyt... |
ORPHA:2801 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
| Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial... |
ORPHA:412 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemo... |
ORPHA:848 |
| Neonatal Alloimmune Neutropenia |
|
Fever, Pneumonia, Maternal diabetes, Jaundice, Severe infection, Neutropenia in presence of anti-... |
ORPHA:464370 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U... |
ORPHA:2196 |
| Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... |
ORPHA:137675 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre... |
OMIM:618913 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
| Cholesteryl Ester Storage Disease |
|
Arteriosclerosis |
ORPHA:75234 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Ebola Hemorrhagic Fever |
|
Fever, Abnormal bleeding, Acute pancreatitis, Gastrointestinal hemorrhage, Maculopapular exanthem... |
ORPHA:319218 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Coronary artery atherosclerosis |
ORPHA:79084 |
| Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Dec... |
OMIM:102700 |
| Congenital Atransferrinemia |
|
Arthritis, Anemia, Recurrent infections |
ORPHA:1195 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... |
ORPHA:48435 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Chorea, Sepsis, Dehydrati... |
ORPHA:94093 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Rec... |
OMIM:614379 |
| Ogden Syndrome |
|
Apnea, Maternal diabetes, Cardiomegaly, Lymphedema, Microvesicular hepatic steatosis, Ventricular... |
OMIM:300855 |
| Ramon Syndrome |
|
Telangiectasia of the skin, Abnormality of retinal pigmentation, Osteolysis, Abnormal dental enam... |
ORPHA:3019 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly, Jaundi... |
ORPHA:79301 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy |
ORPHA:2515 |
| Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula... |
ORPHA:90117 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
| Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis |
OMIM:616833 |
| Cholestasis-Lymphedema Syndrome |
|
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... |
OMIM:611182 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Generalized edema, Decreased mean corpuscular he... |
ORPHA:244242 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg... |
ORPHA:2137 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Ma... |
ORPHA:324575 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated circulating C-reactive protein concentration, Edema, BCGosis, Per... |
OMIM:619644 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Retinal exudate, Feeding difficulties |
OMIM:620368 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Dyspnea, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, I... |
OMIM:127550 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal b... |
OMIM:204000 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Skin rash, Ataxia, Hypothermia, Diarrhea, Gait disturbance, Arrhythmia, Abno... |
ORPHA:29822 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocyto... |
ORPHA:3261 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Feeding difficulties in infancy, Op... |
ORPHA:1466 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... |
ORPHA:227990 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy... |
OMIM:610199 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... |
ORPHA:3260 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrophic cardiomyopathy, Co... |
ORPHA:79083 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Meningococcal Meningitis |
|
Fever, Shock, Neonatal respiratory distress, Stiff neck, Skin rash, Projectile vomiting, Elevated... |
ORPHA:33475 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Ovarian neoplasm, Co... |
ORPHA:157798 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ... |
ORPHA:85435 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Feeding difficulties in infanc... |
ORPHA:355 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Small for gestational age... |
OMIM:208085 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal intra... |
ORPHA:79303 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... |
ORPHA:227982 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode |
ORPHA:199354 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Diarrhea, Limb ataxia, Cardiomyopathy, Positive Romberg sign, Constipation,... |
OMIM:105210 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Vasculitis, Hypothermia |
ORPHA:90026 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Lymphad... |
OMIM:301078 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:164500 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Subcutaneous lipoma, Abdominal... |
ORPHA:79076 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease |
OMIM:609536 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Fever, Skin rash, Eosinophilia, Cardiac arr... |
ORPHA:139402 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Vomiting, Pulmonary hypoplasia, Glyco... |
OMIM:231680 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi... |
ORPHA:199241 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Malnutrition, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Decre... |
ORPHA:930 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Foam cells |
ORPHA:264675 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, ... |
OMIM:277900 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Atheroscl... |
ORPHA:2348 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... |
ORPHA:186 |
| Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Failure to thriv... |
OMIM:256000 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Protein avoidance, Hyperammonemia, Dysmetria, Hyperor... |
OMIM:238970 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio... |
OMIM:115197 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu... |
ORPHA:100080 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Paralytic ileus, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia, ... |
OMIM:276700 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro... |
ORPHA:91139 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
| Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormality of retinal pigmentation, Abnormality of the liver, F... |
ORPHA:474 |
| Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Abnormal bleeding, Portal hypertension, Intr... |
ORPHA:64743 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Flynn-Aird Syndrome |
|
Atherosclerosis |
ORPHA:2047 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... |
OMIM:613404 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Enamel hypoplasia, Hepatitis, Recurrent fever |
ORPHA:363523 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Abnormality of... |
ORPHA:2552 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Emphysema, Nephrotic syndrome |
ORPHA:60 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation |
ORPHA:1117 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Thickened cortex of long bones, Congestive heart failure, Enamel hypo... |
OMIM:253250 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hypoventilation, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inab... |
OMIM:618493 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericard... |
OMIM:261740 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... |
OMIM:617780 |
| Menkes Disease |
|
Feeding difficulties in infancy, Chorea, Sepsis, Intracranial hemorrhage, Hernia, Osteoporosis, J... |
ORPHA:565 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
| Melioidosis |
|
Fever, Brain abscess, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Unusual skin in... |
ORPHA:31202 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Failure to thrive, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive, Diabetes mell... |
ORPHA:100 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Osteopenia, Hypoglycemia, Hepatoc... |
ORPHA:369 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Third degree atrioventricular block |
ORPHA:480 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent ear infections, Recurrent upper respiratory tract infections, R... |
OMIM:614962 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis |
OMIM:608600 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Reduced intraabd... |
ORPHA:363400 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hypoglycemic ... |
OMIM:231530 |
| Tenorio Syndrome |
|
Osteopenia, Joint laxity, Apnea, Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Keratocon... |
OMIM:616260 |
| Alexander Disease |
|
Osteopenia, Nausea and vomiting, Diabetes mellitus, Ataxia, Hypothermia, Sudden cardiac death, Pr... |
ORPHA:58 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Feeding difficulties in infancy, Flexion contracture, Optic ... |
ORPHA:141 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc... |
ORPHA:91387 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Poor suck, Hypoglycemia, Hypothermia |
OMIM:615026 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... |
OMIM:259700 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concent... |
ORPHA:2902 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Hypothermia, Dyspnea, Insulin resistance, Di... |
ORPHA:230 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy |
OMIM:520000 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Cranial ... |
OMIM:259710 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal penis morpholo... |
ORPHA:95455 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Tularemia |
|
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C... |
ORPHA:3392 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroid... |
ORPHA:562 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Ataxia, Increased bone mineral dens... |
ORPHA:77261 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Abno... |
ORPHA:290 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
| Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... |
ORPHA:449280 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fe... |
ORPHA:276575 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
| Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Poor appetite, Adipose tissue loss, Severe varicella zoster infecti... |
ORPHA:125 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Cleft palate |
OMIM:601076 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hydrops fetali... |
ORPHA:79282 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... |
ORPHA:528 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Tachypnea, Simplified gyral pattern, Dysmetria, Vomiting, Hyper... |
OMIM:220111 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
| Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... |
ORPHA:2686 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Acute Lung Injury |
|
Respiratory distress, Fever, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Diarrhea, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmen... |
OMIM:560000 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... |
ORPHA:47612 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin... |
ORPHA:5 |
| Pneumocystosis |
|
Fever, Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis... |
ORPHA:723 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... |
ORPHA:33402 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Pedal edema, Abnormal EKG, Patent ductus arteriosus, Bronchiec... |
ORPHA:980 |
| Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Myocardial infarction, Joint stiffnes... |
ORPHA:902 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... |
ORPHA:83628 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis |
ORPHA:209902 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Orthostatic hypotension, Ataxia, Hypothermia, Flexion contrac... |
ORPHA:99027 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Eos... |
OMIM:615816 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... |
OMIM:613490 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Wei... |
ORPHA:141152 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Hypoglycemia, Hypothermia |
OMIM:610006 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Wa... |
ORPHA:2590 |
| Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ... |
ORPHA:98848 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
| Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus, Intestinal malrotation |
ORPHA:2143 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
| Whipple Disease |
|
Myositis, Myocardial infarction, Anorexia, Uveitis, Pedal edema, Cough, Hypothyroidism, Infectiou... |
ORPHA:3452 |
| Bronchial Neuroendocrine Tumor |
|
Anorexia, Poor appetite, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noni... |
ORPHA:97287 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere... |
ORPHA:1830 |
| Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... |
ORPHA:333 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... |
OMIM:619375 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Respiratory insufficiency, Feeding difficulties, Bradycardia, Left ventricular hyper... |
OMIM:614654 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta... |
ORPHA:440713 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Sepsis, Paralytic il... |
ORPHA:810 |
| Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Generalized edema, Abdominal pain, Enlarged polycystic ovaries, Abdominal di... |
ORPHA:64739 |
| Polymyositis |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Anorexia, Gastroesopha... |
ORPHA:732 |
| Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmona... |
ORPHA:97244 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Joint stiffness, L... |
ORPHA:584 |
| Erdheim-Chester Disease |
|
Cough, Increased bone mineral density, Hypogonadotropic hypogonadism, Ataxia, Abdominal pain, Pul... |
ORPHA:35687 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus |
ORPHA:2736 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cystic ang... |
OMIM:269700 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasi... |
OMIM:617341 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79239 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Los... |
ORPHA:254361 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:3032 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:613011 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Overweight, Feeding diffi... |
OMIM:619575 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Ab... |
ORPHA:79474 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... |
ORPHA:589 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Malabsorption |
OMIM:600705 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Apnea, Hypothermia, Feeding difficulties, Bradycardia, Joint contracture |
OMIM:614498 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Hypothermia, Osteoporosis, Intra... |
OMIM:309400 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus |
OMIM:617466 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... |
ORPHA:1873 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Elevated circulating C-reactive protein concentration, Crackles... |
ORPHA:319213 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
| Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
| Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614350 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Fever, Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Thromb... |
ORPHA:319251 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
| Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Retinitis Pigmentosa |
|
Atypical scarring of skin, Abnormality of retinal pigmentation, Abnormal retinal vascular morphol... |
ORPHA:791 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectas... |
OMIM:612387 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Abdominal diste... |
OMIM:617300 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob... |
ORPHA:91500 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I... |
OMIM:301000 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... |
OMIM:602450 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
| Acatalasemia |
|
Arteriosclerosis |
ORPHA:926 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Facial palsy, Feeding difficulties, Pigmentary retinopathy, Abnormal... |
ORPHA:370968 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Atherosclerosis |
ORPHA:1979 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Omenn Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Edema, Splenomegaly, Leukocytosi... |
ORPHA:39041 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Apnea, Ataxia, Hypothermia, Cardiac conduction abnormalit... |
ORPHA:255210 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy, Oligohydramnios |
ORPHA:261311 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent systemic pyogenic infections, Recurrent bact... |
OMIM:214500 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent viral infections, Recurrent aspiration pneumonia, Intention tremor, Psorias... |
ORPHA:221139 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Alg12-Cdg |
|
Edema, Polyhydramnios, Sepsis, Recurrent hypoglycemia, Hypoalbuminemia, Gastroesophageal reflux, ... |
ORPHA:79324 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Anorexia, Chore... |
ORPHA:1304 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Ataxia, Foot joint contracture, Achilles tend... |
ORPHA:456312 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Patent ductus arteriosus, Tachypnea, ... |
OMIM:616501 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Pet... |
ORPHA:158029 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
| Occipital Horn Syndrome |
|
Osteopenia, Gastroesophageal reflux, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteo... |
ORPHA:198 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Cryoglobulinemic Vasculitis |
|
Fever, Hepatomegaly, Viral hepatitis, Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, ... |
ORPHA:91138 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Rod-cone dy... |
OMIM:609033 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... |
OMIM:617100 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Increased bone mineral density, Prolonged QT interval, Ventri... |
ORPHA:36913 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... |
ORPHA:99147 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Immunodeficiency 31C |
|
Osteopenia, Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recu... |
OMIM:614162 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal... |
ORPHA:99745 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Fever, Osteomyelitis, Skin rash, Eosinophilia, Recu... |
ORPHA:2314 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Hypothermia |
OMIM:618557 |
| Diastrophic Dysplasia |
|
Recurrent respiratory infections, Increased bone mineral density, Camptodactyly of finger, Joint ... |
ORPHA:628 |
| Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... |
ORPHA:276556 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Bronchiectasi... |
OMIM:617638 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadotropic hypogonadi... |
ORPHA:79237 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
| Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma... |
ORPHA:3124 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy |
OMIM:614307 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, De... |
OMIM:619510 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Failure to thr... |
ORPHA:1572 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... |
ORPHA:264580 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposi... |
ORPHA:447877 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
| Desmosterolosis |
|
Failure to thrive, Increased bone mineral density, Abnormal cortical gyration, Intestinal malrota... |
ORPHA:35107 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Ataxia, Polyhydramnios, Malnutrition, Osteoporosis, Feeding difficulties, Gastroesophageal reflux... |
OMIM:619971 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Polyhy... |
ORPHA:436252 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Decreased nerve conduction velocity, ... |
ORPHA:85446 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, X... |
ORPHA:289390 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato... |
OMIM:612541 |
| Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Periorbital edema, Flexion contracture, Conjunctivitis, Hepatomegaly, Lympha... |
OMIM:617591 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Dysphagia, Pigmentary retinopathy, Aspiration pneumonia, Tube fee... |
ORPHA:79264 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Edema, Leukopenia, Hypoalbuminemia, Infectious encephalitis, Meningitis, Hyponatremia, Hepatomega... |
OMIM:603553 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Subcutaneous hemorrhage, Retinal pigment epithelial mottl... |
ORPHA:448237 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Epistaxis, Hypersplen... |
OMIM:230800 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspirat... |
OMIM:617053 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi... |
OMIM:240300 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Aspiration pneumonia, Dysphagia, Rod-cone dystrophy |
ORPHA:216866 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abdominal symptom, Elevated gamma-glutamyltransferase level, Peri... |
ORPHA:400 |
| Niemann-Pick Disease, Type C1 |
|
Foam cells, CNS foam cells, Bone-marrow foam cells |
OMIM:257220 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Jaundice, Fulminant hepatitis... |
OMIM:618549 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Niemann-Pick Disease, Type A |
|
Cherry red spot of the macula, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells |
OMIM:257200 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Feeding difficulties, Pigmentary retinopathy, Cardiomyopath... |
ORPHA:329336 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... |
OMIM:154230 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Abnormality of temperature ... |
ORPHA:1334 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... |
OMIM:259720 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Recurrent viral infections,... |
ORPHA:420741 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... |
OMIM:608233 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Feedin... |
OMIM:619013 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Hypoplasia of the ovary |
OMIM:615300 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Optic atrophy, Dilated cardiomyopathy, Pigmentary retinopathy, Hypertrophic ... |
OMIM:252011 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
| Vici Syndrome |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Feeding difficulties in in... |
ORPHA:1493 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Hepatomegal... |
ORPHA:394 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma |
ORPHA:1259 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... |
OMIM:607115 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Vomiting, Cou... |
OMIM:613658 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
| Cln3 Disease |
|
Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, T-wave inv... |
ORPHA:228346 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Hepatomegaly, Intestinal pseud... |
OMIM:309900 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal... |
ORPHA:538 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Hypospadias, Atelectasis, Glandular hypospadias, Micropenis, Penile hypospa... |
OMIM:300219 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T... |
OMIM:620233 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Pneumonia |
ORPHA:85179 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Edema, Intestinal perforation, Secretory diarr... |
ORPHA:544482 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... |
ORPHA:167 |
| Pycnodysostosis |
|
Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral density, Decre... |
ORPHA:763 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Vomiting, Hypocalcemia, Ataxia, Abdominal pain, Osteoporosis, Delayed pub... |
OMIM:212750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Pigmentary retinopathy,... |
OMIM:613156 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Anorexia, Periorbital edema, Pedal edema, Hepatome... |
ORPHA:33226 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Hypoglycemia, Small for gestational age, Bronchiectasis, Hyperammonemia, Respiratory insuf... |
OMIM:618253 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Uveitis, Lymphadenopathy, Inflammatory abnormality of the ... |
ORPHA:36412 |
| Duplication Of Urethra |
|
Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi... |
ORPHA:237 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Increased circulati... |
OMIM:617241 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Failure to thrive, Villous atrophy, Edema, Diarrhea, Hypoalbumin... |
OMIM:602579 |
| Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Eczema, Hypothermia, Inab... |
ORPHA:488632 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... |
OMIM:604250 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy, Dysphagia |
OMIM:619473 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... |
ORPHA:507 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Impaired T cell function, Inflammation of the... |
OMIM:614576 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration... |
ORPHA:642 |
| Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... |
ORPHA:2780 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Pseudobulbar paralysis, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
| Secondary Short Bowel Syndrome |
|
Atherosclerosis |
ORPHA:95427 |
| Acute Disseminated Encephalomyelitis |
|
Fever, Viral hepatitis, Somatic sensory dysfunction, Respiratory failure requiring assisted venti... |
ORPHA:83597 |
| Prolidase Deficiency |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly... |
ORPHA:742 |
| Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... |
ORPHA:100026 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy |
ORPHA:44 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... |
OMIM:242700 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
| Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Meningitis, Hepatomegaly, Hemolytic an... |
ORPHA:809 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Increased body weight, ... |
ORPHA:79240 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Rickets |
OMIM:219900 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Increased circulating ... |
ORPHA:343 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Dehydration, Iron deficiency... |
ORPHA:1667 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperins... |
OMIM:616033 |
| Oeis Complex |
|
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... |
OMIM:258040 |
| Prune Belly Syndrome |
|
Intestinal malrotation, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus, Volv... |
ORPHA:2970 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal int... |
OMIM:606528 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Lymphoid Interstitial Pneumonia |
|
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepa... |
ORPHA:79128 |
| H Syndrome |
|
Microcytic anemia, Hernia, Psoriasiform dermatitis, Recurrent pharyngitis, Bronchiectasis, Hepato... |
ORPHA:168569 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Optic atrop... |
OMIM:612301 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Villous atrophy, Edema, Feeding difficulties in infancy, Flexion contracture, Dysmetr... |
OMIM:212065 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Abnormality of retinal pigmentation |
ORPHA:3085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Pulmonary arterial hypertension, Nasogastric tube feeding in infancy |
OMIM:619059 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in ... |
OMIM:608836 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Gm1 Gangliosidosis |
|
Hydrops fetalis, Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration pneum... |
ORPHA:354 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Hypothermia, Gastroesophageal reflux, Arrhythmia, Abnormal pattern of respiration |
ORPHA:168593 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged ble... |
OMIM:231200 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Decreased cir... |
ORPHA:453533 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:1496 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Lack of facial subcutaneous fat, Microcytic anemia, Recu... |
ORPHA:2959 |
| Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmo... |
OMIM:614008 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus, Hiatus hernia |
OMIM:606408 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
| Rheumatoid Arthritis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... |
OMIM:180300 |
| Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Splenomegaly, Hyperostosis, Bronchogenic cyst, Irregular ... |
ORPHA:2969 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Horner syndrome |
OMIM:106070 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... |
ORPHA:100085 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Nonproductive cough, Lymphadenitis, Sepsis, Conjun... |
ORPHA:31204 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Hypothyroidism, Joint laxity, H... |
ORPHA:438213 |
| Gapo Syndrome |
|
Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:2067 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Impaired vibratory sensation, Pro... |
ORPHA:415 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pne... |
ORPHA:90790 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Choreoathetosis, Glucose intolerance, T lymphocytopenia, ... |
OMIM:208900 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Neoplasm ... |
ORPHA:1332 |
| Leptospirosis |
|
Respiratory distress, Anorexia, First degree atrioventricular block, Uveitis, Cough, Meningitis, ... |
ORPHA:509 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding d... |
ORPHA:365 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Arteriosclerosis, Hypertension, Cerebral ischemia, Stroke, Pulmonary a... |
OMIM:242900 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Abnormal pleura morphology, Nodular regenerat... |
ORPHA:210136 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Delayed vertebral ossification, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79443 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate |
ORPHA:247768 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Fever, Liver abscess, Neutrophilia, Elevated circul... |
ORPHA:54251 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend... |
ORPHA:3384 |
| Niemann-Pick Disease, Type C2 |
|
Foam cells, CNS foam cells, Bone-marrow foam cells |
OMIM:607625 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Nonimmune h... |
ORPHA:367 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Seps... |
ORPHA:533 |
| Kawasaki Disease |
|
Edema, Conjunctivitis, Cholecystitis, Meningitis, Abdominal pain, Recurrent pharyngitis, Leukocyt... |
ORPHA:2331 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... |
ORPHA:3208 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... |
ORPHA:85443 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Diabetes mellitu... |
ORPHA:140896 |
| Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, Gastroesophagea... |
OMIM:164745 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigme... |
OMIM:618541 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-... |
OMIM:248370 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Abdominal distention, Hyperinsulinemia, Cholestasis, Rec... |
OMIM:246200 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Ataxia, Inabi... |
ORPHA:79243 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Heart block, Splenomegaly, Cardiomyopathy, Retinopathy |
ORPHA:773 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Gastrointestinal infarc... |
OMIM:602248 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Abdominal symptom, Increased bone mineral density, Prolonged QT interval, Decreased r... |
ORPHA:94089 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... |
ORPHA:276608 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| Alkaptonuria |
|
Coronary artery calcification, Hypertension, Myocardial infarction, Atherosclerosis |
ORPHA:56 |
| Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Distal arthrogryposis, Retinal fold, Congenital finger flexi... |
OMIM:108145 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Schwartz-Jampel Syndrome |
|
Apnea, Elevated circulating creatine kinase concentration, Polyhydramnios, Feeding difficulties i... |
ORPHA:800 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
| Primary Hyperoxaluria Type 1 |
|
Stroke, Atherosclerosis |
ORPHA:93598 |
| Burkitt Lymphoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Gastrointestinal dysmotility, Bloody diarrhea, Hypoalbuminemia, Cough, Constrictiv... |
ORPHA:67 |
| Slc35A1-Cdg |
|
Respiratory distress, Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumo... |
ORPHA:238459 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... |
ORPHA:247691 |
| Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception... |
ORPHA:14 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Aortic regurgitation, Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Recurrent ... |
ORPHA:309288 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| 12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Intestinal malrotation, Abnormality of the spleen, Osteopoikilosis, Failure to... |
ORPHA:94063 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... |
OMIM:142680 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Hypothermia, Feeding difficulties in infancy, Cardiorespiratory arrest, Stridor, Bronchosp... |
OMIM:608800 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... |
OMIM:300972 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Recurrent bacterial infections, Hypocalcemia, Hypomag... |
OMIM:244460 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
| Dengue Fever |
|
Fever, Hepatomegaly, Nausea and vomiting, Gastrointestinal hemorrhage, Skin rash, Epistaxis, Pete... |
ORPHA:99828 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Rod-cone dyst... |
OMIM:268315 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Bowel incontinence, Gastr... |
ORPHA:88628 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of pe... |
ORPHA:585 |
| Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hype... |
ORPHA:729 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Feeding difficulties |
OMIM:619517 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... |
ORPHA:98870 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... |
ORPHA:247598 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... |
OMIM:619752 |
| Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... |
ORPHA:97280 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Feeding difficulties in... |
OMIM:218700 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Diarrhea, Bronchiectasis, Increased circu... |
OMIM:242860 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... |
OMIM:242840 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
| Pmm2-Cdg |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Lymphedema, Elevated circulating t... |
ORPHA:79318 |
| Diffuse Cutaneous Mastocytosis |
|
Fever, Hepatomegaly, Gastrointestinal hemorrhage, Peau d'orange, Abdominal pain, Abnormality of t... |
ORPHA:79456 |
| Rett Syndrome |
|
Increased serum pyruvate, Inability to walk, Hyperammonemia, Gait disturbance, Cholecystitis, Inc... |
ORPHA:778 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... |
OMIM:259900 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Abdominal symptom, Increased bone mineral density, Prolonged QT interval, Hypergonado... |
ORPHA:79444 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Edema, Pulmonary embolism, Mi... |
ORPHA:90308 |
| Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis |
ORPHA:634 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Aspiration, Pachygyria, Hypoventilation, ... |
ORPHA:258 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
| Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... |
ORPHA:3440 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Ataxia, Abnormal cytokine signaling... |
ORPHA:158048 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
| Malignant Atrophic Papulosis |
|
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,... |
ORPHA:679 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Currarino Syndrome |
|
Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Bicornuate uterus,... |
OMIM:176450 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis,... |
OMIM:620365 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... |
ORPHA:2796 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Burkitt lymphoma, Disseminated cutaneous warts |
OMIM:618307 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
| Muir-Torre Syndrome |
|
Colonic diverticula, Ovarian neoplasm, Colon cancer, Benign gastrointestinal tract tumors, Duoden... |
OMIM:158320 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatos... |
ORPHA:900 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... |
OMIM:181000 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
| Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict... |
ORPHA:90363 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumon... |
OMIM:619057 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... |
OMIM:616860 |
| Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Cardiomega... |
ORPHA:904 |
| Cholesteryl Ester Storage Disease |
|
Hepatic foam cells, Portal hypertension, Bone-marrow foam cells |
OMIM:278000 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... |
ORPHA:131 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Melena, Corneal neovascularizatio... |
OMIM:158310 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Abnor... |
ORPHA:79430 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... |
ORPHA:85450 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly |
OMIM:612291 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
| Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Hypoalbuminemia, H... |
ORPHA:398063 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Osteopenia, Morgagni diap... |
OMIM:613177 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr... |
OMIM:610910 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Jaundice, Optic nerve dysplasia,... |
OMIM:214110 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Increased susc... |
ORPHA:189427 |
| Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Ectopic... |
ORPHA:2059 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Bifid uvula |
OMIM:616258 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Osteoporosis, Reduced bone mineral density |
ORPHA:2235 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte p... |
ORPHA:99867 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... |
OMIM:192315 |
| Cryptococcosis |
|
Respiratory distress, Fever, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulm... |
ORPHA:1546 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Intermittent hypothermia, Feeding difficulties in infancy, Diarrhea, Cardiorespiratory arr... |
OMIM:608643 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy... |
OMIM:222300 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Abnormality of neutrophils, Myocardial infarction, Sepsis, Conjunctivitis,... |
ORPHA:36426 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... |
ORPHA:740 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Reduced bone mineral dens... |
ORPHA:581 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Foam cells |
ORPHA:747 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Recurrent upper respiratory tract infections, Increased size of naso... |
OMIM:619769 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal foveal ... |
ORPHA:580 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased... |
OMIM:187900 |
| Tangier Disease |
|
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis |
ORPHA:31150 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Joint hypermobility, Redu... |
OMIM:223360 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Dyspnea, Atelectasis, Limitation of j... |
ORPHA:728 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Acne, Elevated tissue non-specific alkaline phosphatase, Enlarged polycystic ovaries,... |
ORPHA:785 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Weight loss, Restric... |
ORPHA:98897 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal r... |
ORPHA:95430 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestat... |
ORPHA:79644 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
| Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... |
ORPHA:247353 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Abnormality of temperature regulation, Apnea, Rec... |
ORPHA:667 |
| Lysosomal Acid Lipase Deficiency |
|
Precocious atherosclerosis, Bone-marrow foam cells, Hypovolemia, Stroke, Hypotension, Pulmonary a... |
ORPHA:275761 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ... |
ORPHA:59315 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of... |
OMIM:309801 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Lymphadenop... |
OMIM:617827 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Tricuspid regurgitation, T... |
ORPHA:505248 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Osteopenia, Edema, Large for gestational age, Cardiomegaly, Polyhydramnios,... |
ORPHA:363705 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circu... |
ORPHA:2785 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Renal artery atherosclerosi... |
ORPHA:565612 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Optic atrophy, Feeding difficulties, Pigmentary retino... |
OMIM:617282 |
| Infantile Neuroaxonal Dystrophy |
|
Ataxia, Unsteady gait, Flexion contracture, Apneic episodes in infancy, Gait disturbance, Constip... |
ORPHA:35069 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Vomiting, Decreased liver function, Diffuse ... |
ORPHA:436271 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Hydrops fetalis, Dehydration,... |
OMIM:557000 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Lichen Planopilaris |
|
Abnormal intestine morphology, Hepatitis |
ORPHA:525 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:2163 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Reduced bone mineral density, Hepatomegaly, Micronodular cirrho... |
ORPHA:404454 |
| Hypophosphatasia |
|
Feeding difficulties in infancy, Craniosynostosis, Emphysema, Anemia |
ORPHA:436 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Pancytopenia, Joint laxity, At... |
ORPHA:309282 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Feeding difficulties in infancy, Congestive heart failure, Cholestasis, ... |
ORPHA:746 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Abnormal circulating carnitine concentration, Choreoathetosis, Decreased activ... |
ORPHA:431361 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Polyhydramnios, Recurrent pneumonia, Fle... |
OMIM:614098 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Polyhydramnios, Feeding diffic... |
OMIM:176270 |
| Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Abdominal pain, Abnorm... |
ORPHA:727 |
| Cystic Fibrosis |
|
Osteopenia, Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormali... |
ORPHA:586 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... |
ORPHA:699 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... |
ORPHA:2715 |
| Aicardi Syndrome |
|
Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Fee... |
ORPHA:50 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
| Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level |
ORPHA:35706 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Edema, Increased connective tissue, Po... |
ORPHA:98905 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Congestive heart failure, Abnormal pancre... |
ORPHA:48818 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Ov... |
ORPHA:69663 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Hypotension, Postural hypot... |
ORPHA:369873 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Hypothyroidis... |
OMIM:620005 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Elevated circulating creatine kinase concentration, Flexion contracture, Restrictive v... |
OMIM:253700 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Feeding... |
OMIM:216550 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Uterus didelphys, Bicornuate uterus,... |
ORPHA:958 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Raine Syndrome |
|
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Subperio... |
OMIM:259775 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Lym... |
OMIM:607944 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diarrhea, Hypochromic microcytic anemia, Vomiting, Osteopetr... |
ORPHA:3240 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly ... |
ORPHA:90652 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Meningiti... |
ORPHA:117 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Joint hemor... |
ORPHA:169805 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic... |
OMIM:600462 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Protuberant abdomen |
OMIM:617102 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Bru... |
OMIM:614866 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Polyhydramnios, Feeding difficulties in infancy, Anorectal anomaly, Abn... |
ORPHA:567 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Feeding difficulties |
OMIM:614105 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Respiratory distress, Intestinal perforation, Sepsis, Conjunctivitis, Neut... |
ORPHA:537 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Low... |
ORPHA:50918 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Dehydration, Periodontitis, ... |
ORPHA:534 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalce... |
OMIM:241410 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnor... |
ORPHA:217085 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
| Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:93672 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Recurrent respiratory infections, Intestinal obstruction, Abnormal dental ena... |
ORPHA:2323 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Atelectasis, Patent ductus arteriosus, Renal hyp... |
OMIM:269860 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Microcytic anemia, Retinal telangiectasia, Pulmonary embolism, Chole... |
ORPHA:774 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Cholestasis, Feeding difficulties, Pigmentary r... |
OMIM:609015 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Duodenal stenosis |
ORPHA:2470 |
| 3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic stenosis |
ORPHA:435638 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Desmosterolosis |
|
Generalized osteosclerosis, Patent ductus arteriosus, Joint contracture of the hand, Arthrogrypos... |
OMIM:602398 |
| Familial Chylomicronemia Syndrome |
|
Precocious atherosclerosis, Pulmonary embolism |
ORPHA:444490 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnor... |
ORPHA:217093 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy, Third degree atrioventricular block... |
OMIM:530000 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Vomiting, Decreased... |
OMIM:606721 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis |
ORPHA:220295 |
| Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Preco... |
ORPHA:845 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Intestinal malrotation |
OMIM:222448 |
| Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Lymphangiectasis |
ORPHA:182 |
| Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastro... |
OMIM:619488 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Brushfield spots, Dysphagia, Fe... |
OMIM:214100 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, Arterial occlus... |
ORPHA:416 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Hypoglycemia, Hepatocellular carc... |
OMIM:232200 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Optic atrophy, Pigmentar... |
ORPHA:96180 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Foot joint contracture, Scarring, Hypermelanot... |
ORPHA:90321 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,... |
OMIM:210900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Decreased liver... |
OMIM:220110 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Cleft palate, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular c... |
OMIM:301072 |
| Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Hepatic fibrosis, Hypertension |
ORPHA:110 |
| Werner Syndrome |
|
Premature arteriosclerosis |
OMIM:277700 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retina... |
ORPHA:157850 |
| Wolfram Syndrome |
|
Central apnea, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus... |
ORPHA:3463 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Hypertension, Retinal arteriolar constriction, Vascular calcification, Athero... |
ORPHA:191 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Ataxia, Sepsis, Recurrent infections, Recurre... |
ORPHA:204 |
| Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Abnorm... |
ORPHA:744 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... |
OMIM:618820 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Neoplasm of the colon, ... |
ORPHA:440437 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Fever, Unusual skin infection, Sinusitis, Ataxia, Pneumonia, Stiff neck, Nau... |
ORPHA:68 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatas... |
OMIM:253200 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Recurrent infect... |
OMIM:617052 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... |
OMIM:620296 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elevated diast... |
ORPHA:90041 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Enterocoliti... |
ORPHA:79259 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
| Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma |
ORPHA:2510 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Nausea and vomiting, G... |
ORPHA:144 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Vomiting, Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, H... |
OMIM:619525 |
| Hereditary Xanthinuria |
|
Arthropathy, Recurrent urinary tract infections, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid... |
ORPHA:3467 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Hyperostosis, Hepatic hemangioma, Gastroe... |
ORPHA:73230 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Intestinal malrotation, Polyhydramnios, Asplenia, Patent ductus arterios... |
ORPHA:99776 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Bicornuate uterus, Micropenis, Anal atresia, Median cleft lip and palate |
OMIM:264480 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... |
ORPHA:70 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Retinal atrophy, Abnormal aud... |
OMIM:216400 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Anal atresia, Clitora... |
OMIM:300707 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Chronic constipation, Pigmentary retinopathy, Telangiectasia |
OMIM:612582 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Plague |
|
Respiratory distress, Chapped lip, Anorexia, Edema, Lymphadenitis, Sepsis, Bloody diarrhea, Acute... |
ORPHA:707 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Fat malabsorption, Elevated gamma-glutamyltransferase level, Hypot... |
ORPHA:30391 |
| Cholera |
|
Hyponatremia, Fever, Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea... |
ORPHA:173 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Recurrent respiratory infections, Emphysema |
OMIM:219100 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Agammaglobulinemia, Shuffling gait, Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Failure to thrive, Inguinal hernia, Lipodystrophy, Subretinal pigment epithelium hemorrhage, Gene... |
ORPHA:357074 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Renal Agenesis, Bilateral |
|
Abnormal morphology of female internal genitalia, Abnormal intestine morphology, Tracheoesophagea... |
ORPHA:1848 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Th... |
OMIM:251260 |
| Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Repeated pneumothoraces, Craniosynostosis, Atelectasis, ... |
ORPHA:536467 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Umbilical hernia, Pneumonia |
OMIM:613328 |
| Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... |
OMIM:248500 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatit... |
OMIM:238600 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Coffin-Lowry Syndrome |
|
Feeding difficulties in infancy, Abnormality of retinal pigmentation, Craniofacial hyperostosis, ... |
ORPHA:192 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ... |
ORPHA:886 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... |
ORPHA:790 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Abdominal pain, Respiratory insuf... |
ORPHA:2135 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hypogly... |
OMIM:617156 |
| Beaulieu-Boycott-Innes Syndrome |
|
Velopharyngeal insufficiency, Endometriosis |
OMIM:613680 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Shawl scrotum, Cryptorchidism, Tracheoesophageal fi... |
ORPHA:2745 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, High palate, Abnormality of the uterus, Protein-losing enteropathy, Abnormal fall... |
ORPHA:1655 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Abdominal distention, Insuli... |
ORPHA:508 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Retinal detachment, Inguinal hernia, Gastrointestinal hemorrhage, Congestive heart fa... |
OMIM:225400 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Elbow flexion contracture |
OMIM:226960 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Labial hypoplasia, Bicornuate uterus, Anal atresia |
ORPHA:140952 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Lymphedema, Atrioventricular block, R... |
ORPHA:324 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Feeding difficulties in infancy, Op... |
ORPHA:193 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Progressive flexion contractures, Postural tremor, Focal dysto... |
ORPHA:98808 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Pyloric stenosis, Papillary cystadenoma of the epididymis, Bico... |
ORPHA:93111 |
| Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Cardiac conduction abnormality, Ga... |
ORPHA:550 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Polyhydramnios, Thrombocytopeni... |
OMIM:603467 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Recurrent infections, Persistence of hemo... |
OMIM:260400 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Dysphagia, Feeding difficulties, Stridor, Ga... |
OMIM:230900 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Pyloric stenosis, Hypoplasia of the uterus, Hypoplastic labia majora, Gonadal dysgenesis, Clitora... |
OMIM:618419 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Lipoma, Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
| Autoerythrocyte Sensitization Syndrome |
|
Fever, Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epis... |
ORPHA:324636 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, High palate, Bifid uterus |
ORPHA:1521 |
| Fryns Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Esophageal atresia, Cr... |
OMIM:229850 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Hepatic cysts, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Es... |
OMIM:263200 |
| 46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
| Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... |
ORPHA:1227 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Polyhydramnios, Nasogastric tube feeding in infancy, Flexion contracture, Knee fle... |
ORPHA:2020 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Hepatomegaly, Abnormally ossified vertebrae, Aganglionic meg... |
ORPHA:175 |
| Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:909 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Heart murmur |
ORPHA:1867 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, High palate |
OMIM:615866 |
| Myopathy, Mitochondrial, And Ataxia |
|
Multiple lipomas, Pigmentary retinopathy |
OMIM:617675 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias... |
ORPHA:322 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Intestinal pseudo-o... |
ORPHA:273 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Mic... |
OMIM:617925 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Anal atresia, Absent external genitalia |
OMIM:271520 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Tremor, Splenomegaly, Recurrent candida infections, Decreased serum zinc |
OMIM:201100 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Lymphedema, Reduced bone mineral density, Gastrointestinal inf... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Lymphedema, Reduced bone mineral density, Gastrointestinal inf... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Myocardial infarction, Lymphedema, Reduced bone mineral density, Gastrointestinal inf... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Myocardial infarction, Lymphedema, Reduced bone mineral density, Gastrointestinal inf... |
ORPHA:881 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, High palate |
OMIM:110100 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy |
OMIM:610651 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Abnormal lung morphology, Chorea, Hydrops fetalis, Abnorma... |
ORPHA:646 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Abnormal auditory evoked potentials, Decreased... |
OMIM:133540 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Ataxia, Left ventricular systolic dysfunction, Dilated car... |
OMIM:619167 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Marshall-Smith Syndrome |
|
Apnea, Large sternal ossification centers, Aspiration pneumonia, Pachygyria, Recurrent aspiration... |
OMIM:602535 |
| Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, D... |
OMIM:219700 |
| Cirrhosis, Familial |
|
Fever, Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrh... |
OMIM:215600 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... |
OMIM:209900 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Endometriosis, Velopharyngeal insufficiency, Micropenis, Anal atresia |
ORPHA:363444 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,... |
ORPHA:90349 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
| Hemophilia B |
|
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
| Chops Syndrome |
|
Gastroparesis, Splenomegaly, Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return... |
OMIM:616368 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Renal Agenesis |
|
Absent vas deferens, Anal atresia, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Tracheoesophageal fistula, Cleft palate... |
ORPHA:2879 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Micropenis, A... |
OMIM:614083 |
| Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Aplasia/Hypoplasia of the uvul... |
ORPHA:84 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Polyhydramnios, Feeding difficulties, Anterior predominant thick cor... |
ORPHA:95232 |
| Trisomy 18 |
|
Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat... |
ORPHA:3380 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Ectopic anus, Abnormality of the uterus, A... |
ORPHA:3138 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Constipation, Rickets, Vomiting |
ORPHA:411629 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
| Lead Poisoning |
|
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morp... |
ORPHA:330015 |
| Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Narrow palate, Bicornuate uterus, High palate, Unicornuate uterus |
OMIM:200980 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
| Atelis Syndrome 2 |
|
Dyspnea, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:620185 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Feeding difficulties, Chronic constipation, Aspiration pneumonia, Fa... |
OMIM:616430 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Abnormal dental ... |
ORPHA:2556 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Carney Triad |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Limited elbow movement, Limited wrist movement, Polyhydramnios, Dyspnea,... |
OMIM:617809 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Absent external genitalia, Bilateral cryptorchidism, Cleft palate, Hypoplastic lab... |
OMIM:263650 |
| Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Feeding difficulties, Cardiomyopathy, Decreased beta-galacto... |
ORPHA:79255 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Early ossifica... |
ORPHA:397715 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of the skin, Hypopigmentation of hair, Oral-pharyngeal dysphagia, ... |
OMIM:219800 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Nausea, A... |
OMIM:229600 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... |
ORPHA:99921 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Corneal scarring, Dysphagia, Feeding difficulties, Pigmentary retinopath... |
OMIM:618460 |
| Fraser Syndrome |
|
Anal stenosis, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal vagina m... |
ORPHA:2052 |
| Lathosterolosis |
|
Foam cells with lamellar inclusion bodies |
OMIM:607330 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Coffin-Siris Syndrome |
|
Joint laxity, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Simplified ... |
ORPHA:1465 |
| Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptor... |
ORPHA:93932 |
| Acute Radiation Syndrome |
|
Fever, Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interst... |
ORPHA:454831 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Aganglionic megacolon, Intestinal malrotation, Septate vagina, Hypo... |
OMIM:270400 |
| Chand Syndrome |
|
Atelectasis, Hydroureter |
ORPHA:1401 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... |
ORPHA:93924 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate,... |
OMIM:265380 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Hypertriglyceridemia, Smal... |
OMIM:264090 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, C... |
ORPHA:636 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
| Cleft Velum |
|
Oral-pharyngeal dysphagia, Nasal regurgitation, Aspiration pneumonia, Recurrent otitis media, Poo... |
ORPHA:99772 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Failure to thrive, Inguinal hernia, Polyhydramnios, Gray matter heterotopia, Joint c... |
OMIM:247200 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Cleft palate |
ORPHA:3320 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu... |
OMIM:614527 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Erythema no... |
OMIM:613471 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... |
OMIM:107480 |
| Immunoglobulin A Vasculitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Vasculitis, Optic atr... |
ORPHA:761 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... |
ORPHA:284339 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... |
ORPHA:466768 |
| Meacham Syndrome |
|
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina |
OMIM:608978 |
| Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Feeding difficulties in infancy, Pigmentary retinopathy, Neutropenia, Throm... |
OMIM:277400 |
| Alg9-Cdg |
|
Villous atrophy, Bicornuate uterus, Gastroesophageal reflux, Hypoplasia of the ovary, Bifid uvula |
ORPHA:79328 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Camptodactyly |
OMIM:614230 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Shuffling gait, Difficulty walking, Aspiration pneumonia, Impaired oropharyngeal swallow ... |
ORPHA:53351 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Macroglossia, Bic... |
OMIM:269150 |
| Ulnar-Mammary Syndrome |
|
Anal stenosis, Small scrotum, Pyloric stenosis, Bicornuate uterus, Shawl scrotum, Micropenis, Imp... |
OMIM:181450 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... |
ORPHA:314655 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Cleft pala... |
ORPHA:2729 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus... |
OMIM:219000 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Retinal pigment epithelial mottling, Dilated cardio... |
OMIM:607459 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Hyperlipoproteinemia, Type Id |
|
Premature coronary artery atherosclerosis |
OMIM:615947 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... |
ORPHA:90324 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon,... |
OMIM:122470 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... |
ORPHA:109 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis, Feeding difficulties in infancy, Optic atrophy, Pigmentary retinopathy, Dysphagia... |
OMIM:234200 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Cervical C2/C3 vertebral fusion, Congestiv... |
ORPHA:444077 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infancy, Patent duc... |
ORPHA:280633 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, In... |
ORPHA:353281 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... |
OMIM:130050 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Inte... |
ORPHA:330021 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Simplifi... |
ORPHA:500150 |
| Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Bicornuate uterus, Aganglionic megacolon, Cleft palate |
OMIM:154400 |
| Marfan Syndrome |
|
Osteopenia, Retinal detachment, Inguinal hernia, Spontaneous pneumothorax, Congestive heart failu... |
ORPHA:558 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H... |
ORPHA:201 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Abnormal pulmonary i... |
ORPHA:217563 |
| Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Chorioretinal atrophy, Cholestasis, Pigmentary retinopathy, Reduced num... |
OMIM:118450 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Inguinal hernia, Congestive heart failure, Bronchiectasis, Mitral regurgita... |
OMIM:123700 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus didelphys... |
ORPHA:93271 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Fused labia majora, Bifid scrotum, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Aplasia of the ... |
OMIM:618280 |
| Pagod Syndrome |
|
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... |
ORPHA:991 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft palate, Aplasia of the uterus, Aplasia of the ovary, Submucous cleft sof... |
ORPHA:69085 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Telangiectasia |
OMIM:266270 |
| Loeys-Dietz Syndrome |
|
High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Chronic constipation, Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Small for gestational age, Craniosy... |
OMIM:612289 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesoph... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesoph... |
ORPHA:353277 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Inguinal hernia, Enamel hypoplasia |
OMIM:272460 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Gastrostomy tube feeding in infancy, Dyspha... |
OMIM:619482 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Cleft palate, Bifid uterus |
OMIM:236680 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Generalized joint laxity, Increased circu... |
OMIM:619472 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... |
OMIM:616268 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... |
ORPHA:2232 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Joint laxity, Ectopic posterior pituitary, Inguinal hernia, Small for gesta... |
ORPHA:508488 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Cleft palate, Bifid uterus |
OMIM:256520 |
| Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, female,... |
OMIM:249000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Meckel diverticulum, Cleft palate |
OMIM:274000 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Gastric ulcer,... |
OMIM:135900 |
| Keutel Syndrome |
|
Recurrent bronchitis, Premature fusion of phalangeal epiphyses, Costal cartilage calcification, E... |
OMIM:245150 |
| Peters Plus Syndrome |
|
Intestinal fistula, Hypospadias, Cryptorchidism, Cleft palate, Hypoplasia of the uterus, Clitoral... |
ORPHA:709 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Bif... |
ORPHA:2363 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Osteopenia, Lipoatrophy, Camptodactyly of finger, Increased ... |
ORPHA:3455 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, High, narrow palate, Cryptorchidism, Cystocele, Gastrointestinal infarctions, Abnorm... |
ORPHA:286 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastro... |
OMIM:194190 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Cryptorchidism, Esophageal varix, High palate, Dysphagia, Unicornuate uterus, ... |
OMIM:619503 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Sagittal craniosynostosis, Polyhydramnios, Congenital ... |
ORPHA:79500 |
| Lafora Disease |
|
Ataxia, Inability to walk, Gait disturbance, Hepatic failure, Recurrent aspiration pneumonia, Nas... |
ORPHA:501 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Impaired T cell function, Recurrent viral infections, Abnormal joint morpholog... |
OMIM:176690 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Hypo... |
OMIM:261540 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Cleft... |
ORPHA:199 |
| Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Rectal prolapse, Cervical insufficiency, Gastroesophageal reflux, Uterine prolapse |
ORPHA:287 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Anteriorl... |
ORPHA:857 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse, Rectal prolapse, High palate, Narrow palate |
OMIM:303600 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cherry red spot of the macula, Coronary artery atherosclerosis |
ORPHA:77293 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Bicornuate uterus, ... |
OMIM:268300 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
| Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Kabuki Syndrome 1 |
|
Hemolytic anemia, Intestinal malrotation, Premature thelarche, Autoimmune thrombocytopenia, Feedi... |
OMIM:147920 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Small for gestational age, Failure to thrive in infancy, Polyhydramn... |
OMIM:216340 |
| Pallister-Hall Syndrome |
|
Decreased testicular size, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrom... |
ORPHA:672 |
| Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, High palate, Bifid uvula, Cleft palate |
ORPHA:284984 |
| Pallister-Killian Syndrome |
|
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, ... |
OMIM:601803 |
| Loeys-Dietz Syndrome 3 |
|
Eosinophilic infiltration of the esophagus, Cystocele, Cleft palate, High palate, Uterine prolaps... |
OMIM:613795 |
