Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Kerion Celsi |
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Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Complement Component C1R/C1S Deficiency |
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Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Immunodeficiency 18 |
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Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... |
OMIM:615615 |
Glycoprotein Storage Disease |
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Splenomegaly, Gout |
OMIM:232900 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio... |
OMIM:604416 |
Systemic Lupus Erythematosus 16 |
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Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Immunodeficiency 42 |
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Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Thrombocythemia 3 |
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Thrombocytosis, Ischemic stroke |
OMIM:614521 |
X-Linked Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... |
ORPHA:47 |
Immunodeficiency 15B |
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Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ... |
OMIM:615592 |
Masp2 Deficiency |
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Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Tularemia |
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Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno... |
ORPHA:3392 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Complement Component C1S Deficiency |
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Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Immunodeficiency 69 |
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Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... |
OMIM:304790 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Omenn Syndrome |
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Hepatomegaly, Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leuko... |
ORPHA:39041 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency 104 |
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Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Muckle-Wells Syndrome |
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Episcleritis, Hepatomegaly, Skin rash, Short stature, Camptodactyly of finger, Splenomegaly, Vasc... |
ORPHA:575 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, L... |
OMIM:617591 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
C1Q Deficiency 1 |
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Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Immunodeficiency 24 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Omenn Syndrome |
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Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc... |
OMIM:603554 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... |
OMIM:607594 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
Thrombocytopenia 2 |
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Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Throm... |
ORPHA:905 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... |
OMIM:209950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... |
ORPHA:829 |
Fetal Cytomegalovirus Syndrome |
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Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Isolated Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Osteoarthritis Susceptibility 3 |
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Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... |
OMIM:607850 |
Classic Mycosis Fungoides |
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Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Pruritus, Splenomegaly, Ly... |
ORPHA:2584 |
Immunodeficiency 46 |
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Chronic oral candidiasis, Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Failure to ... |
OMIM:616740 |
Dysplasia Of Head Of Femur, Meyer Type |
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Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... |
ORPHA:168621 |
Schnitzler Syndrome |
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Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Va... |
ORPHA:37748 |
Immunodeficiency 51 |
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Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Familial Cold Autoinflammatory Syndrome 2 |
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Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Sézary Syndrome |
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Hepatomegaly, Alopecia, Pruritus, Splenomegaly, Lymphadenopathy, Nail dystrophy, Erythroderma, Ab... |
ORPHA:3162 |
Autosomal Agammaglobulinemia |
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Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cellulitis, Bronchiec... |
ORPHA:33110 |
Muckle-Wells Syndrome |
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Renal insufficiency, Maculopapular exanthema, Short stature, Leukocytosis, Polyarticular arthriti... |
OMIM:191900 |
Juvenile Temporal Arteritis |
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Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
Beta-Thalassemia Intermedia |
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Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Immunodeficiency 92 |
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Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Griscelli Syndrome |
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Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
Periodic Fever, Familial, Autosomal Dominant |
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Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... |
OMIM:142680 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Congenital Atransferrinemia |
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Arthritis, Hypothyroidism, Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
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Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
Poikiloderma With Neutropenia |
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Joint laxity, Skin rash, Short stature, Joint stiffness, Sparse eyebrow, Splenomegaly, Recurrent ... |
OMIM:604173 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Thrombocythemia 1 |
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Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Farber Lipogranulomatosis |
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Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... |
OMIM:228000 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C... |
ORPHA:169154 |
Immunodeficiency 50 |
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Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Chondrocalcinosis 2 |
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Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, Vesicoureteral reflux, Hepa... |
OMIM:615895 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... |
ORPHA:169160 |
Clouston Syndrome |
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Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteopenia, Increased inflammatory response, Autoimmunity, Protrusio acetabuli, Knee osteoarthrit... |
ORPHA:2619 |
Primary Myelofibrosis |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Hereditary Spherocytosis |
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Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Candidiasis, Familial, 1 |
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Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility |
ORPHA:2582 |
Cinca Syndrome |
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Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Lymphadenopathy, Hepatosplen... |
OMIM:607115 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Familial Cold Autoinflammatory Syndrome 1 |
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Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Pfapa Syndrome |
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Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal... |
ORPHA:39812 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infe... |
ORPHA:486 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Felty Syndrome |
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Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Lymph... |
ORPHA:47612 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... |
OMIM:602450 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... |
ORPHA:397596 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alop... |
ORPHA:809 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Renal insufficiency, Joint dislocation, Skin rash, Proteinuria, Pruri... |
ORPHA:36412 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Severe short stature, Hypoplasia of penis, Long eyebrows, Decrea... |
OMIM:275400 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der... |
OMIM:603165 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Raynaud phenomenon, Pustule, Joint stiffnes... |
OMIM:615934 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Thrombocytopenia, Wrist swelling, A... |
ORPHA:448237 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Short stature, Keratitis, Pruritus, Corneal erosion, Erythroderma, Failure to thrive, A... |
ORPHA:79394 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll... |
OMIM:612843 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro... |
OMIM:301080 |
Immunodeficiency 48 |
|
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema... |
OMIM:269840 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarth... |
ORPHA:85408 |
Melioidosis |
|
Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung ... |
ORPHA:31202 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Increased b... |
ORPHA:77297 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Elevated hepatic transaminase, Alopecia, Short stature, Conjunctivitis, Elevated gam... |
OMIM:242150 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopenia, Erythroder... |
OMIM:619510 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis, Decreased proportion of class-switch... |
OMIM:613493 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... |
OMIM:253260 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H... |
OMIM:269200 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Autoinflammatory-Pancytopenia Syndrome |
|
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal infl... |
OMIM:619858 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... |
ORPHA:1304 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:613812 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti... |
OMIM:612692 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... |
OMIM:240300 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Keratoconjunctivitis, Growth delay, Weight loss, Organic aciduria, Thrombocytop... |
ORPHA:79242 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid... |
ORPHA:37042 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair |
ORPHA:505 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Spl... |
ORPHA:91138 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon... |
OMIM:615688 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu... |
OMIM:194380 |
Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... |
ORPHA:1467 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly... |
OMIM:263700 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe... |
ORPHA:85414 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Failure to thrive, Limitation of joint mobility, Ectopic ossification in ligament tissu... |
ORPHA:337 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... |
ORPHA:32960 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Th... |
ORPHA:540 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Renal insufficiency, Pustule, Overweight, Leukocytosis, Congestive... |
ORPHA:247353 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... |
OMIM:615387 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E... |
ORPHA:549 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal... |
OMIM:607765 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,... |
OMIM:615059 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, Coombs-positive... |
OMIM:614034 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folli... |
OMIM:308800 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Myocarditis, Cervical lymphadeno... |
ORPHA:2331 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hematuria,... |
OMIM:617021 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... |
OMIM:617388 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, ... |
ORPHA:79456 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hai... |
OMIM:614602 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Copper Deficiency, Familial Benign |
|
Curly hair, Seborrheic dermatitis, Early balding, Failure to thrive, Anemia |
OMIM:121270 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia,... |
OMIM:615704 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili... |
ORPHA:69126 |
Ichthyosis With Confetti |
|
Short stature, Pruritus, Hypertrichosis, Hypoplastic nipples, Erythroderma, Decreased body weight... |
OMIM:609165 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... |
OMIM:619164 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter... |
OMIM:307200 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Shigellosis |
|
Uveitis, Hypovolemic shock, Conjunctivitis, Acute colitis, Abscess, Hemolytic-uremic syndrome, Le... |
ORPHA:810 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Recurrent skin infections, Eczema, Allergic rhinitis, Brittle sc... |
OMIM:256500 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne... |
OMIM:618282 |
Eng-Strom Syndrome |
|
Arthritis, Short stature, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:1937 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pruritus, Splenomegaly,... |
ORPHA:79301 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... |
OMIM:614480 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Failure to thrive, Absence of lymph node germinal center, Splenom... |
OMIM:308230 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal ... |
ORPHA:2796 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... |
OMIM:619868 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Proteinuria, Elevated circulating aspartate aminotransferase concent... |
OMIM:620010 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Skin rash, Corneal opacity, Short stature, Diabetes mellitus, Abnormal hair m... |
ORPHA:317 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... |
ORPHA:90156 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Failure to ... |
OMIM:214110 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... |
OMIM:616100 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis |
ORPHA:36237 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo... |
ORPHA:231 |
Q Fever |
|
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali... |
ORPHA:781 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepat... |
OMIM:242700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Decreased proportion... |
OMIM:619126 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Syndromic Diarrhea |
|
Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... |
ORPHA:84064 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Flexion contracture, Neonatal epiphyseal stippling, Microcornea, Coar... |
ORPHA:35173 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Micropenis |
OMIM:618840 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Amelogene... |
OMIM:612782 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension, Premature coronary... |
OMIM:610947 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry red spot of the macula, Failure to t... |
ORPHA:796 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Hepatomegaly, Recurrent skin infections, Short stature, Joint stiffness, Postn... |
OMIM:620210 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... |
OMIM:612541 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Short stature, Splenomegaly, Limitatio... |
ORPHA:93476 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Abse... |
ORPHA:277 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Prurit... |
OMIM:607626 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... |
OMIM:615010 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails,... |
ORPHA:2930 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Osteoporosis, Lymphaden... |
ORPHA:98848 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Vascular dilatation, Vasculitis, Arterial... |
ORPHA:3287 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog... |
ORPHA:346 |
Listeriosis |
|
Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv... |
ORPHA:533 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hyp... |
ORPHA:436252 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pu... |
ORPHA:37 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... |
OMIM:300755 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatic steatosis, Scarring, Corneal scarring, Chronic hepat... |
ORPHA:101330 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... |
ORPHA:3260 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Precocious puberty, Obesity, Hirsutism |
OMIM:604931 |
Caspase 8 Deficiency |
|
Failure to thrive, Short stature, Pneumonia, Eczema, Splenomegaly, Lymphadenopathy, Decreased CD4... |
OMIM:607271 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Arthropathy, Hypogonadotropic hypogonadism... |
OMIM:235200 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, E... |
ORPHA:2325 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Conjunct... |
OMIM:226600 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,... |
ORPHA:417 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... |
ORPHA:2890 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop... |
ORPHA:292 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He... |
ORPHA:440713 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit... |
OMIM:620321 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive card... |
OMIM:607685 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p... |
OMIM:616576 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Onycholysis, Pterygium |
ORPHA:525 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Sparse eyelashes, Eczema, Short stature, Sparse eyebrow, Abnormal h... |
ORPHA:634 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Joint stiffness, Absent eyelashes, Sparse eyebrow, Growt... |
ORPHA:2985 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Brittle hair, Trichoschisis, Short stature, Small for gestational age, Flexion contract... |
OMIM:601675 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp... |
ORPHA:324964 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, F... |
ORPHA:172 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... |
OMIM:105200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... |
ORPHA:83471 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... |
OMIM:230350 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:411593 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... |
ORPHA:36234 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Roifman Syndrome |
|
Hepatomegaly, Hip contracture, Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia,... |
OMIM:616651 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... |
OMIM:602540 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Peripheral arter... |
ORPHA:71493 |
Nicolaides-Baraitser Syndrome |
|
Joint dislocation, Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow... |
ORPHA:3051 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Short stature, Failure to thrive in infancy, Portal hypertension, Hyp... |
OMIM:613385 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Sh... |
ORPHA:391487 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circulating t... |
OMIM:256040 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Lymphopenia, Myositis, Alopecia, Skin rash, Renal insufficiency, Proteinuria, Discoid... |
ORPHA:93552 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, Budd-Chiari syn... |
OMIM:226300 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Epicanthus, Failure to thrive, Cardiomegaly, Splenomegaly, Congestive h... |
OMIM:269920 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Acrocyanosis |
ORPHA:3165 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large... |
OMIM:301074 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Osteopenia, Brittle hair, Multiple joint contra... |
ORPHA:33364 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Lacrimal... |
OMIM:106260 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a... |
ORPHA:589 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... |
OMIM:246400 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anemia of inadequate production, Anisocytosis, Sple... |
OMIM:615631 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyp... |
ORPHA:83317 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Pruritus, Sparse hair, Erythroderma, Chronic otitis media, Ab... |
ORPHA:313 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Increased bone mineral d... |
OMIM:259720 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis, Lymphadeno... |
ORPHA:98850 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Vasc... |
ORPHA:50918 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, Onychogryposis |
OMIM:614328 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Elevated total serum trypt... |
ORPHA:157991 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Nephropathy, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosc... |
OMIM:617056 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Bronchiectasis,... |
ORPHA:79128 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair, Ectropion |
OMIM:242300 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
H Syndrome |
|
Microcytic anemia, Corneal arcus, Hernia, Micropenis, Alopecia, Psoriasiform dermatitis, Short st... |
ORPHA:168569 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... |
OMIM:214900 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa... |
ORPHA:2552 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o... |
ORPHA:3261 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Thrombocytopenia, Congestive heart failure, Hepatitis, ... |
ORPHA:454836 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Increased propo... |
OMIM:618982 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Ca... |
ORPHA:3386 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Diabetes mellitus, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia,... |
OMIM:606069 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Pruritus, Nephrog... |
OMIM:613404 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur... |
ORPHA:53 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f... |
OMIM:610199 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematuria, Proteinuria, Synovitis... |
ORPHA:567544 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Tricuspid regurgitation, Hepatosplenomeg... |
ORPHA:505248 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Conjunctivitis, ... |
ORPHA:99827 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Erythroderma, Abnormality of the nail |
ORPHA:2897 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature |
OMIM:188150 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Weight loss, Leukopenia, Chronic otitis media, Failure to ... |
ORPHA:33355 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... |
OMIM:618495 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic ane... |
OMIM:615846 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome... |
OMIM:612714 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Scarring alopecia of scalp, Red-brown urine, Erythroid hyperplasia, Purple urine, Hem... |
ORPHA:95159 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... |
OMIM:619693 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonado... |
ORPHA:465508 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, He... |
ORPHA:171 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Lymphaden... |
OMIM:618935 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Renal insufficiency, Protein... |
ORPHA:728 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... |
OMIM:170100 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor e... |
OMIM:618806 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Acne, Diabetes mellitus, Dorsocervical fat pad, Osteop... |
OMIM:615830 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Short stature, Lipodystroph... |
OMIM:612526 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Alpha-Mannosidosis |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Splenomegaly, Arthritis, Type II diabet... |
ORPHA:61 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Hepatic fibrosis, Cherry re... |
ORPHA:333 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Incomplete ossification of pubis, Metopic depression, H... |
ORPHA:313855 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... |
ORPHA:1345 |
Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph... |
OMIM:609981 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis... |
ORPHA:77259 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Short stature, Eczema, Hyperconvex nail, Eosinophi... |
ORPHA:353298 |
Familial Cold Urticaria |
|
Pruritus, Arthritis, Conjunctivitis |
ORPHA:47045 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar... |
OMIM:614204 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Sinusitis, Short stature, Diabetes mellitus, Fema... |
OMIM:208900 |
Porphyria Cutanea Tarda |
|
Alopecia, Reduced uroporphyrinogen decarboxylase activity, Porphyrinuria, Onycholysis, Cirrhosis,... |
OMIM:176100 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Recurrent skin infections, Partial absence of specific antibody ... |
OMIM:301082 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... |
OMIM:618999 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocardial infarctio... |
ORPHA:3452 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone m... |
ORPHA:391 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Hypogonadism, Intrauterine growt... |
OMIM:608540 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Epicanthus, Brittle hair, Short stature, Upslanted palpebral fissure, Int... |
ORPHA:50812 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... |
OMIM:203800 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... |
ORPHA:398124 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphaden... |
OMIM:260920 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Severe short stature, Flexion con... |
OMIM:203550 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium... |
OMIM:305000 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Epicanthus, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concent... |
OMIM:611182 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
Generalized Eruptive Keratoacanthoma |
|
Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... |
OMIM:613101 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Hypereosinophilia, Lymphadeno... |
OMIM:212050 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Thrombocytopenia |
OMIM:617443 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis |
OMIM:610539 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Monosomy 22 |
|
Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemi... |
ORPHA:96123 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short stature, Autoimmune thromb... |
ORPHA:1855 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Autoimm... |
ORPHA:36913 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetro... |
OMIM:259730 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Agel Amyloidosis |
|
Cataract, Proteinuria, Pruritus, Bilateral ptosis, Stage 5 chronic kidney disease, Cardiomyopathy... |
ORPHA:85448 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... |
OMIM:102700 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... |
OMIM:620282 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Short stature, Hypochromic microcytic anemia, Arthritis, Septic arth... |
OMIM:619423 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure r... |
OMIM:613179 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidias... |
OMIM:158310 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Vasculitis, Anemia |
ORPHA:375 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Foot joi... |
ORPHA:90321 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Epiphyseal ... |
OMIM:302960 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:614921 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Weight l... |
ORPHA:29207 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, ... |
OMIM:619487 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B... |
OMIM:619381 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased ac... |
OMIM:607616 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Short stature, Diffuse alveolar hemorrhage, Splenomeg... |
OMIM:616050 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Scarring, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Mal... |
ORPHA:90322 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Rectal... |
ORPHA:70475 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Urethral atresia, Coarse hair, Hypoplasia ... |
ORPHA:1896 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... |
ORPHA:73263 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... |
ORPHA:79153 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granules, Thrombocytopenia,... |
ORPHA:238459 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Poems Syndrome |
|
Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Sclerosis of skull base, Increase... |
ORPHA:2905 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma |
OMIM:610163 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Conjunctival hamartoma, Erythroderma |
ORPHA:312 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hype... |
ORPHA:79277 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Primary Erythromelalgia |
|
Leukemia, Vasculitis, Abnormality of thrombocytes |
ORPHA:90026 |
Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Nail dystrophy, Erythroderma, Sparse hair, Ectropion |
ORPHA:100976 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling,... |
ORPHA:584 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Leukocytosis, Thrombocytosis, Hypotension |
ORPHA:134 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Proportionate short stature, Seborrhe... |
ORPHA:488618 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Epistax... |
OMIM:211600 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Lichen Planus Pemphigoides |
|
Pruritus, Conjunctivitis, Abnormality of the nail, Blepharitis |
ORPHA:254478 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Hepatitis, Sparse lateral eyebrow |
ORPHA:363523 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Acitretin/Etretinate Embryopathy |
|
Epicanthus, Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block,... |
ORPHA:40366 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst... |
OMIM:103285 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Hypotension... |
ORPHA:20 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Hypergonadotropic hypogonadism, Flexion contracture, ... |
ORPHA:2850 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... |
OMIM:278000 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, Growth del... |
OMIM:301078 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Short stature, Eczema, Postnatal grow... |
OMIM:212750 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Hep... |
OMIM:232220 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Disproportionate short stature, ... |
ORPHA:93308 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Pruritus, Splenomegaly, Intrahepatic cholestasis, Intermittent jaund... |
OMIM:601847 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phe... |
ORPHA:536 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Gastrointes... |
ORPHA:36426 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone... |
OMIM:136300 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... |
ORPHA:679 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Short stature, ... |
ORPHA:1867 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... |
ORPHA:436159 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Lipoma, Limbal dermoid, Lymphangioma, Downslanted palpebral fissu... |
OMIM:176920 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onych... |
ORPHA:2251 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio... |
OMIM:121300 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Nephrotic syn... |
ORPHA:238468 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcorne... |
OMIM:234050 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D... |
ORPHA:31204 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Hepatic necros... |
OMIM:127550 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Lipoatrophy, Splenomega... |
ORPHA:1133 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Jaundic... |
ORPHA:108 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Arthritis, Keratoconjunc... |
ORPHA:779 |
Renpenning Syndrome |
|
Decreased testicular size, Abnormal hairshaft morphology, Epicanthus, Cataract, Alopecia, Severe ... |
ORPHA:3242 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Spl... |
ORPHA:342 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,... |
ORPHA:188 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c... |
OMIM:257200 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis, Failure to thrive, Small for gestational age |
OMIM:613217 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... |
OMIM:619016 |
Mucopolysaccharidosis, Type Ix |
|
Hyperextensibility at elbow, Acetabular erosions, Short stature, Periarticular soft-tissue mass, ... |
OMIM:601492 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, B lymphocytopenia, Recurrent sinusitis, Neut... |
OMIM:601495 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
Osteoarthritis With Mild Chondrodysplasia |
|
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Hip osteoarthritis |
OMIM:604864 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Skin rash, Short stature, Splenomegaly, Thrombocytopenia... |
ORPHA:290 |
Lesch-Nyhan Syndrome |
|
Anemia, Renal insufficiency, Hematuria, Gout |
ORPHA:510 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemo... |
OMIM:277900 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Increased cir... |
OMIM:617099 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Severe short stature, Rhizomelia, Calcific stippling of infantile cartilaginous skeleto... |
OMIM:215100 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Xanthelasma, Corneal arcus, Sto... |
OMIM:210250 |
Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Delayed closure of the anterior font... |
ORPHA:1451 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Autoimmunity, Minimal change glomerulonephritis |
OMIM:617006 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, He... |
ORPHA:1775 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Ectopic os... |
ORPHA:2485 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... |
ORPHA:94093 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Failure to ... |
ORPHA:79312 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased B cell count, Eczema, Absent peripheral lymph nodes in presence of infectio... |
ORPHA:98813 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ... |
OMIM:602271 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... |
OMIM:214950 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dacryocystitis, Bronchiectasis, Hep... |
ORPHA:1163 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ... |
ORPHA:2762 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossification, Limited knee exte... |
OMIM:600969 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Lack of facial subcutaneous fat, Microcytic anemia, T ly... |
ORPHA:2959 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Absent eyebrow, Sparse scalp hair, Alopecia, Palpebral edema, Absent eyel... |
ORPHA:69735 |
Caroli Disease |
|
Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatomeg... |
ORPHA:53035 |
Subcorneal Pustular Dermatosis |
|
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin... |
ORPHA:797 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Recurrent skin infections, Ectropion, Proteinuria, Diabetes mellitus, Corneal erosion, ... |
ORPHA:33001 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve... |
ORPHA:449395 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... |
OMIM:618131 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Nail dystrophy |
OMIM:616487 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Gastrointes... |
ORPHA:537 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Joint st... |
OMIM:252920 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, G... |
OMIM:615508 |
Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis |
OMIM:177900 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel... |
OMIM:618944 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Skin rash, Short stature,... |
OMIM:610377 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... |
ORPHA:183 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Alopecia, Maculopapula... |
OMIM:308300 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Reduced level... |
OMIM:224120 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cataract, Short stature, Urinary excretion of sialylated oligosacc... |
OMIM:256550 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Epicanthus, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Os... |
OMIM:618541 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast... |
ORPHA:509 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Elevate... |
OMIM:613489 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... |
OMIM:243700 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Ureth... |
OMIM:613990 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,... |
OMIM:252900 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Chronic ... |
ORPHA:90280 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag... |
OMIM:249100 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity |
ORPHA:163703 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Limitation of joint mobility, Vasculitis,... |
ORPHA:343 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Short stature, Splenomegaly, Flexion contracture,... |
ORPHA:87876 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level,... |
OMIM:231000 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... |
ORPHA:319218 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Joint stiffness, Me... |
ORPHA:397 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Premature thelarche, Osteolysis involving bones of the upper limbs, Atri... |
ORPHA:371428 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic... |
ORPHA:1882 |
Gaucher Disease Type 2 |
|
Splenomegaly, Flexion contracture, Cardiac arrest, Hepatomegaly |
ORPHA:77260 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Polyarticular arthritis, Lymphopenia, Thr... |
OMIM:616744 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Flexion contracture, Stroke-like episode, Cardiomyopathy, Thrombocytosi... |
OMIM:212065 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Capillary leak, Retinal vasculitis, P... |
OMIM:615758 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Failure to thrive, Orthostatic hypotens... |
ORPHA:199299 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
Recon Progeroid Syndrome |
|
Joint laxity, Short stature, Thrombocytopenia, Hyperconvex thumb nails, Red eye, Absent lower eye... |
OMIM:620370 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria, Hepatic fibrosis, Eczema, Hypertrichosis |
OMIM:176090 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormal EKG, Abnormality o... |
ORPHA:3385 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Exe... |
OMIM:232800 |
Peripheral Dysostosis |
|
Osteoarthritis, Short stature, Joint stiffness |
ORPHA:1795 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Eczema, Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Epicanthus, Increased circulating lactate dehydrogenase concentr... |
OMIM:611881 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Severe short stature, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity,... |
OMIM:132400 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the thymus, Chronic otitis media, Vesicoureteral reflux... |
ORPHA:567 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Epicanthus, Short stature, Flexion contracture, Osteolysis involving bones of the upper... |
ORPHA:88630 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive |
ORPHA:1954 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... |
OMIM:188400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Short stature |
OMIM:271600 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... |
ORPHA:2686 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Epicanthus, Membranoproliferative glomerulon... |
OMIM:137940 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Disproportionate short stature, Delayed ossification of carpal bones, Erythroderma,... |
OMIM:617425 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic... |
OMIM:615207 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Short stature, Hepatomegaly |
ORPHA:2204 |
Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye... |
ORPHA:750 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphaden... |
OMIM:619183 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Raynaud phenomenon, Hypertension, Leukopenia, Arthri... |
ORPHA:206572 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic hypoplasia, He... |
ORPHA:83617 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Hypogonadot... |
OMIM:612079 |
Paget Disease Of Bone 6 |
|
Recurrent fractures, Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase ... |
OMIM:616833 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cellulitis, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean ... |
OMIM:617718 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Atopic dermatitis, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis |
OMIM:618624 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Hepatic steatosis, Alopecia, Acne, Osteoporosis, Increased susceptibility ... |
ORPHA:189427 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Stroke, Lymp... |
OMIM:182410 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Homocitrullinuria |
OMIM:238970 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phosphate wasting, Renal tubu... |
ORPHA:562 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr... |
OMIM:610333 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Failure to thrive in infancy, A... |
OMIM:612852 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... |
OMIM:619849 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay... |
ORPHA:75233 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90160 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... |
OMIM:148210 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Vasculitis, Leukopenia, Increased circulating IgG level, Incr... |
ORPHA:83313 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... |
ORPHA:91547 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Renal insuffic... |
ORPHA:727 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Microno... |
OMIM:301072 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirr... |
OMIM:606003 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Type I diabetes melli... |
OMIM:618549 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Cataract, Short stature, Rhizomelia, Limitation of joint mobility, Growth d... |
ORPHA:177 |
Blau Syndrome |
|
Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Abnormal saliv... |
ORPHA:90340 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Abnormal dental enamel morphology, Pruritus, Cheilitis... |
ORPHA:1334 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Crouzon Syndrome |
|
Multiple suture craniosynostosis, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
Chromomycosis |
|
Keratitis, Pruritus, Ankylosis, Osteolysis, Atypical scarring of skin, Keratoconjunctivitis sicca... |
ORPHA:182 |
Pediatric-Onset Graves Disease |
|
Abnormal eyelid morphology, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentr... |
ORPHA:525731 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis... |
ORPHA:166002 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, ... |
ORPHA:99828 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Corneal opacity, Recurrent skin infections, Camptodactyly of finger, Phimosis... |
ORPHA:2908 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Telecanthus, Delayed cranial suture closure, Raynaud phenomenon, Recurr... |
OMIM:616260 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Lymphad... |
OMIM:618048 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl... |
ORPHA:2298 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Severe short stature, Short stature, Protrusio acetabul... |
ORPHA:99642 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic chole... |
OMIM:602347 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular he... |
OMIM:617303 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Inguinal hernia,... |
OMIM:613177 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Corneal opacity, Camptodactyl... |
OMIM:607015 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim... |
ORPHA:3453 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Stiff neck, Cardiomegaly, Hypoplasia of the thymus, Intrauterine growth retardation,... |
OMIM:617022 |
Mevalonic Aciduria |
|
Splenomegaly, Cataract, Downslanted palpebral fissures, Short stature |
ORPHA:29 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Incre... |
ORPHA:355 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Pneumonia, Leukocytosis, Hypoxemia, Leukopenia, Acute infectious pneumonia, ... |
ORPHA:36238 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Epicanthus, Penile freckling, Large for gestational age, Splenomegaly... |
OMIM:605309 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval, Anemia, Hematuria, Malar rash, Serositis, Thrombocytopenia |
ORPHA:231111 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abscess, Abnormality of t... |
ORPHA:228123 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatomegaly, Acholic stools, Elevated ... |
ORPHA:30391 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Ptosis, Alopecia, Hepatomegaly, Short stature, Micronodular cirrho... |
ORPHA:98907 |
Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Renal hypoplasia, U... |
ORPHA:75389 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Decreased respons... |
ORPHA:94089 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... |
ORPHA:3143 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Asymm... |
OMIM:252930 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Joint laxity, Epicanthus, Conjunctival hyperemia |
OMIM:619548 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic... |
ORPHA:124 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Recurrent pneumonia, Downslanted palpebral fissures, Hepatomegaly |
OMIM:615637 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, O... |
ORPHA:36397 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Flexion contracture, Renal cortical cysts, Erythroderma |
OMIM:609180 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Delayed cranial suture closure, Congenital hypoplastic ane... |
OMIM:105650 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Interstitial pneumonitis, Autoimmunity, Aut... |
ORPHA:231154 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic ... |
ORPHA:563609 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Conjunctival hyperemia, Abn... |
ORPHA:95455 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Growth... |
OMIM:616005 |
Macs Syndrome |
|
Joint laxity, Epicanthus, Alopecia, Palpebral edema, Short stature, Hypergonadotropic hypogonadis... |
OMIM:613075 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Short stature, Osteochondritis dissecans |
OMIM:165800 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Blephariti... |
OMIM:618535 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Hypoplasia of penis, Short stature, Hypospadias, Abnormal hair... |
ORPHA:2315 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weigh... |
ORPHA:514 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arthropathy, Congestive heart failure, Arthritis, Arrhythmia |
ORPHA:85446 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve... |
ORPHA:319251 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Intrauterine growth retardati... |
OMIM:616353 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Widely pat... |
ORPHA:2886 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas... |
ORPHA:562639 |
Harlequin Ichthyosis |
|
Cataract, Sudden cardiac death, Limitation of joint mobility, Erythroderma, Ectropion |
ORPHA:457 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Genu recurvatum, Splenomegaly, Abnormal pupil morphology, Abnormali... |
ORPHA:2969 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Cataract, Failure to thrive, Portal hypertension, Congenit... |
ORPHA:974 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Growth delay, Cutaneous telangiectasia, Conjunctivitis, Ectropion |
OMIM:278750 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... |
ORPHA:85212 |
Antisynthetase Syndrome |
|
Joint dislocation, Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Pruritu... |
ORPHA:81 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Osteoarthritis, Generalized joint laxity, Genu... |
ORPHA:85198 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Increased me... |
ORPHA:90041 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... |
OMIM:235555 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o... |
ORPHA:90159 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Poikil... |
OMIM:615234 |
Chikungunya |
|
Raynaud phenomenon, Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodo... |
ORPHA:324625 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... |
OMIM:214500 |
Lig4 Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Pancytopenia, Hypoplasia of penis, Telangiectasia of the s... |
ORPHA:99812 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o... |
ORPHA:169802 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Stroke... |
ORPHA:449285 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Pancytopenia, Unilateral renal agenesis,... |
OMIM:614576 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Increased circulating lactat... |
ORPHA:158057 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Stiff neck, Skin rash, Maculopapular e... |
ORPHA:319213 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility, Short stature |
ORPHA:63442 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Pruritus, Abnormality of the thyroid gland, Jaundic... |
ORPHA:186 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Severe short stature, Joint stiffness, Splenomegaly, Congestive he... |
OMIM:230500 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Hypoxemia, Abnormal blood gas level, Hypotension, Pancreatitis |
ORPHA:70578 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Sple... |
OMIM:259700 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Bilateral ptosis, Osteoarthritis, Cryptorchidism, Ge... |
OMIM:618000 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Ar... |
ORPHA:99745 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatos... |
ORPHA:79259 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Proportionate short stature |
ORPHA:93283 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Inflammator... |
ORPHA:79332 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia |
ORPHA:1046 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Joint stiffness, Splenomegaly, Disproportionate short-trunk short stature, Genu valgum... |
ORPHA:583 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary urgency, Arthritis, Urinary incontinence |
ORPHA:320365 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb... |
OMIM:614008 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Short stature, Premature osteoarthritis, Genu valgum, Delayed ossification of carpal bones, Delay... |
OMIM:607078 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Neutropenia in p... |
OMIM:615952 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Keratitis, Conjunctivitis, Lambdoidal craniosynostosis, Shallow orbits... |
OMIM:123500 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ankle flexion contracture, Splenomegaly, Knee flexio... |
OMIM:608799 |
Incontinentia Pigmenti |
|
Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,... |
ORPHA:464 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Short stature, Fine ha... |
ORPHA:1806 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Developmental cataract, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion contracture,... |
ORPHA:2614 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Colitis, Nail dystrophy, Bone marrow hypocellularity, I... |
OMIM:615190 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Genu varum, Absent eyebrow, Alopecia, Short statur... |
OMIM:264090 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... |
ORPHA:79083 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Conjunctivitis, Eczematoid dermatitis, Decreased circulati... |
ORPHA:79241 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia |
OMIM:620296 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
Familial Benign Copper Deficiency |
|
Early balding, Short stature, Acne, Anemia |
ORPHA:1551 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive, Hypospadias, Eczema, Proportionate short stature, Inguinal herni... |
OMIM:620331 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Abnormality of the endocrine system, Osteoarthritis, A... |
ORPHA:633 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Abnormal dental enamel morphology, Absent eyel... |
ORPHA:861 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Hepatomegaly, Alopecia, Lipodystrophy, Insulin-resistant diabete... |
OMIM:248370 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Lassa Fever |
|
Shock, Jaundice, Conjunctivitis, Oliguria |
ORPHA:99824 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r... |
ORPHA:93672 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveiti... |
OMIM:612387 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral densi... |
ORPHA:834 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Decreased circulating antibod... |
OMIM:222470 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Abnor... |
ORPHA:79078 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Decreased respons... |
ORPHA:79444 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... |
ORPHA:1572 |
Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis, Growth delay, Astigmatism, Recurrent otitis media, Downslanted palpebra... |
OMIM:619762 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Epicanthus, Short stature, Small for gestational age, Splenomegaly, Cryptorchidism,... |
OMIM:618440 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien... |
ORPHA:199296 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Mediastinal lymphaden... |
ORPHA:379 |
Cockayne Syndrome Type 3 |
|
Dry hair, Mild postnatal growth retardation, Flexion contracture, Microcornea, Premature graying ... |
ORPHA:90324 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... |
ORPHA:793 |
Fish-Eye Disease |
|
Hepatomegaly, Corneal opacity, Angina pectoris, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Palpebral edema, Lacrimal duct stenosis, Unilateral renal ag... |
ORPHA:221139 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Intracranial hemor... |
ORPHA:90795 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Congenital hip dislocation, Cryptorchidism, Orbital cyst, Eyelid coloboma |
OMIM:164180 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne... |
OMIM:278730 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... |
OMIM:618394 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Telangiectases of t... |
ORPHA:576 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Mediastin... |
ORPHA:169105 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Congestive heart failu... |
ORPHA:67 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Propionyl-CoA carb... |
OMIM:210210 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin... |
ORPHA:85436 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
Short Syndrome |
|
Telecanthus, Alopecia, Corneal opacity, Severe short stature, Diabetes mellitus, Abnormal dental ... |
ORPHA:3163 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Decreased glomerular fil... |
OMIM:232200 |
Hypochondroplasia |
|
Osteoarthritis, Abnormality of the elbow, Joint hyperflexibility, Childhood onset short-limb shor... |
ORPHA:429 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid... |
ORPHA:171876 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... |
OMIM:617052 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... |
OMIM:618886 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Thrombocytope... |
OMIM:603553 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... |
ORPHA:69085 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly, Cardiomyopathy, Failure to thrive, Ptosis |
OMIM:619046 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Leigh Syndrome |
|
Multiple joint contractures, Complex organic aciduria, Neutropenia, Frontal hirsutism, Alopecia, ... |
ORPHA:506 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ... |
ORPHA:542592 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage |
OMIM:616414 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Nail dy... |
OMIM:205400 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Genu val... |
OMIM:615630 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Growth delay, Pulm... |
ORPHA:2414 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat... |
OMIM:186580 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Alopecia, Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fracture... |
ORPHA:93160 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Severe short stature, Short stature, Inguinal ... |
OMIM:309900 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Cataract, Short stature, Decreased response to growth hormone stimulation test, Conge... |
OMIM:616007 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Juvenile cat... |
ORPHA:2909 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Wormian bones, Decreased ad... |
OMIM:608612 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Decreased respons... |
ORPHA:79443 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st... |
OMIM:615577 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Lipoatrophy, Seborrheic dermatitis, Abnormality of the lymphatic syst... |
ORPHA:276280 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Eczema, Allergic rhinit... |
OMIM:615816 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Increased intraabdominal fat, Hepatic steatosis, Abnormality of the na... |
ORPHA:280365 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Short stature, Decreased response to growth hormone stimul... |
ORPHA:157954 |
Menkes Disease |
|
Joint laxity, Alopecia, Brittle hair, Short stature, Wormian bones, Osteoporosis, Intracranial he... |
OMIM:309400 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Short stature, Craniosynostosis, Absent eyelashes, Cry... |
ORPHA:166035 |
Colchicine Poisoning |
|
Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, ... |
ORPHA:31824 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Cataract, Short stature, Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitat... |
ORPHA:166011 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru... |
OMIM:602400 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Tricuspid regurgitation, Joint hypermobility, Trichorrhexis nodosa, Sinus bradycardia, ... |
OMIM:261990 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Lentiglo... |
ORPHA:191 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,... |
ORPHA:169090 |
Plague |
|
Chapped lip, Hepatomegaly, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly,... |
ORPHA:707 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Epicanthus, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio, Sple... |
OMIM:608233 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Telecanthus, Cataract, Joint hypermobility, Splenomegaly, Growth delay, Long eyelas... |
ORPHA:3473 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Alopecia totalis, Normochromic anemia, B... |
OMIM:618775 |
Marburg Hemorrhagic Fever |
|
Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage,... |
ORPHA:99826 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist, Dystrophic fi... |
ORPHA:1657 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Widened atrophic scar, Knee dislocation, Shoulder dislocation, Per... |
ORPHA:536532 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature... |
OMIM:129400 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Pneumonia, Intraventricu... |
ORPHA:420741 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased body weight, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Osteopor... |
ORPHA:264580 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278740 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Short stature, Recurrent fractures, Splenomegaly, Thrombocytopen... |
OMIM:222700 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Primary adrenal ... |
ORPHA:2047 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Patchy alopecia, Ir... |
OMIM:109650 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Short stature, Developmental cataract, Delayed puberty, Failure to thriv... |
OMIM:616834 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased circulating IgG level, Increased he... |
ORPHA:284227 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... |
OMIM:253270 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Osteolysis, Abnormal toenail morphology, Abnormality of ... |
ORPHA:494 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Alopecia, Raynaud phenomenon, Gastrointestinal telangie... |
ORPHA:90291 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Lymphopenia, Telangiectasia of the skin, Mucosal telangiect... |
ORPHA:100 |
Prolidase Deficiency |
|
Hepatomegaly, Abnormal fingernail morphology, Pruritus, Splenomegaly, Crusting erythematous derma... |
ORPHA:742 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph... |
ORPHA:2045 |
Monilethrix |
|
Abnormal eyebrow morphology, Cataract, Slow-growing hair, Brittle hair, Abnormal eyelash morpholo... |
ORPHA:573 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Angina pectoris, Myocardial infarction, Congestive heart failure, Absence of subcutaneo... |
OMIM:176670 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Short stature, Frontal balding, Synophrys, Obesity, Increased serum testoste... |
ORPHA:247768 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Interstitial Lung And Liver Disease |
|
Hypoxemia, Thrombocytosis, Anemia |
OMIM:615486 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... |
ORPHA:88 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Thrombocytope... |
ORPHA:79330 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Splenomegaly, Elevated hepatic transaminase, Hepatomegaly |
OMIM:306000 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk... |
OMIM:308205 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Short stature, Decreased response to growt... |
OMIM:618223 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Vitamin D-Dependent Rickets, Type 2A |
|
Epicanthus, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enla... |
OMIM:277440 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Epicanthus, Failure to thrive, Eczema, Seborrheic dermatitis, Obe... |
ORPHA:369950 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie... |
ORPHA:221 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pustule, Pruritus, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Bilateral ptosis, Nail dystrophy, Intrauterine growth ... |
OMIM:620040 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agenesis, Hypoplasia... |
OMIM:617666 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopat... |
OMIM:181000 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Joint laxity, Juvenile myelomonocytic leukemia, Epicanthus, Short stature, Highly arched eyebrow,... |
OMIM:613563 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Short stature, Allergic rhinitis, Hypospadias, Small for gestational age, Diabetes mell... |
OMIM:176690 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... |
ORPHA:93351 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Hypoxemia, Bradycardia, Hypotension |
ORPHA:70587 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Abnormal hair morphology, Nephrogenic diabetes insipidus,... |
ORPHA:3130 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Genu varum, Short stature, Leukocytosis, Hepatosplen... |
OMIM:274000 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Short stature, Osteoporosis, Cheilitis, Bronchiectasis, Gro... |
OMIM:615468 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Abnormality o... |
ORPHA:1005 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Delayed epiphyseal ossification, Disproportionate short-limb short stature |
OMIM:618618 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Cachexia, Hematochezia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypoplasi... |
OMIM:616589 |
Hypomelanosis Of Ito |
|
Alopecia, Epicanthus, Cataract, Iris coloboma |
OMIM:300337 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Lacrimal duct stenosis, Pneumonia, Ectopic kidney, Arthritis, Umbilical hernia |
OMIM:613328 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... |
ORPHA:449280 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Hypogonadism, Intr... |
ORPHA:228390 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Keratocon... |
ORPHA:309031 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytope... |
OMIM:242900 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Short stature, Chilblains, ... |
ORPHA:51 |
Analbuminemia |
|
Patent ductus arteriosus, Osteoporosis, Hypotension |
OMIM:616000 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Inguinal hernia, Short st... |
OMIM:130000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,... |
OMIM:174000 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Microcornea, Premature graying of hair, Sparse hair, Absent eyebrow, ... |
OMIM:268400 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom... |
OMIM:610768 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoid arthritis, Mye... |
ORPHA:48104 |
Occipital Horn Syndrome |
|
Osteopenia, Coarse hair, Abnormality of the wrist, Femoral hernia, Osteomalacia, Scarring, Hiatus... |
ORPHA:198 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Arthritis, Nephrotic syndrome, Arr... |
ORPHA:3099 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Weight loss, Hematochezia, Asci... |
ORPHA:2070 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Ar... |
OMIM:153400 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis,... |
OMIM:601853 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Hypertension, Hypotension |
OMIM:611489 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Iridocyclitis, Ankle clonus, Hypogonadism, Type II diabetes mellitus, Type I diabetes m... |
ORPHA:412057 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Impaired T cell function, Minimal change glomerulonephritis, Congestiv... |
ORPHA:1830 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypogonadism, Sparse hair, Fail... |
ORPHA:2316 |
Sialuria |
|
Hepatomegaly, Epicanthus, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Hypop... |
OMIM:269921 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of... |
ORPHA:93474 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278720 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Genu varum, Rickets, Genu valgum, Elevated circulating... |
OMIM:600785 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Short stature, Splenomegaly, Paronychia, Low alkaline phosphatas... |
OMIM:201100 |
Bloom Syndrome |
|
Adipose tissue loss, Paronychia, Uveitis, Otitis media, Decreased proportion of CD4-positive T ce... |
ORPHA:125 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Subcapsular cataract, Hepatic steatosis, Ectropion |
OMIM:275630 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Ectropion, Erythroderma |
OMIM:615023 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenop... |
ORPHA:520 |
Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Eczema, Camptodactyly of finger, Abnormal preputium morphology, Pustule, Abnormali... |
ORPHA:2907 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Osteopenia, Failure to thrive, Acan... |
ORPHA:14 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Keutel Syndrome |
|
Alopecia, Short stature, Recurrent sinusitis, Recurrent otitis media, Pulmonary arterial hyperten... |
ORPHA:85202 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Prolonged QT interval, Tachycardia, Atri... |
OMIM:613327 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Corneal opacity, Craniosynostosis, Scarring, Anemia, Growth ... |
ORPHA:79396 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... |
ORPHA:508542 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Coarse hair, Reduced leukocyte beta-glucuronidase activity, Hepatomegaly, Sh... |
OMIM:253220 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating aspartate aminotransferase ... |
OMIM:608779 |
Bresek Syndrome |
|
Decreased testicular size, Alopecia, Cryptorchidism, Renal hypoplasia, Growth delay, Vesicoureter... |
ORPHA:85284 |
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 |
Pneumocystosis |
|
Abnormal neutrophil count, Hypoxemia, Acute infectious pneumonia, Interstitial pneumonitis, Incre... |
ORPHA:723 |
Chops Syndrome |
|
Curly hair, Cataract, Short stature, Thick hair, Tracheomalacia, Splenomegaly, Synophrys, Cryptor... |
OMIM:616368 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Renal insufficiency, Short stature, Hypospadias, Small for gestational age, Cryptorch... |
OMIM:300661 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology |
OMIM:602248 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Arthritis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascendin... |
OMIM:619825 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Hereditary Xanthinuria |
|
Crystalluria, Arthropathy, Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Sulfit... |
ORPHA:3467 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Renal cyst, Lacrimal duct stenosis |
OMIM:615560 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cataract, Corneal opacity, Short stature, Joint stiffness, Splenomegaly, Coarse hai... |
ORPHA:585 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... |
OMIM:618061 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Slow-growing hair, Thin nail, Sh... |
OMIM:190350 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr... |
OMIM:232240 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Liver absce... |
ORPHA:2038 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278700 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Osteoarthritis, Disproportionate short-trunk short stature, Genu valgum, ... |
OMIM:271650 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Entropion, Keratitis, Bilateral cryptorchidism, Telangiectasia, Conjunctivi... |
OMIM:278800 |
Gapo Syndrome |
|
Keratoconus, Hepatomegaly, Epicanthus, Alopecia, Sparse eyelashes, Delayed cranial suture closure... |
OMIM:230740 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature, Hyperinsulinemia |
ORPHA:66518 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Renal cyst, Gastrointestinal inflammation, Ureterocele, Abnormali... |
ORPHA:79404 |
Erythermalgia, Primary |
|
Pruritus, Keratoconjunctivitis sicca, Palpitations |
OMIM:133020 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak... |
ORPHA:2232 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Lyme Disease |
|
Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Palpitations |
ORPHA:206569 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Localized Scleroderma |
|
Fasciitis, Abnormal skin adnexa morphology, Raynaud phenomenon, Flexion contracture, Vasculitis, ... |
ORPHA:90289 |
Monosomy 18P |
|
Alopecia, Epicanthus, Short stature, Low posterior hairline, Hypertension, Hypothyroidism, Ptosis |
ORPHA:1598 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lipoatrophy, Cranio... |
OMIM:616914 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic... |
OMIM:251290 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu... |
ORPHA:98827 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis... |
ORPHA:85438 |
Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Thrombocytopenia, Leukocytosis, Splenomegaly, Enterocolitis, Bradycardia, ... |
ORPHA:90051 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
Plasminogen Deficiency, Type I |
|
Nephrolithiasis, Nephritis, Conjunctivitis, Periodontitis |
OMIM:217090 |
Hurler Syndrome |
|
Flexion contracture, Hernia, Hepatomegaly, Short stature, Hepatosplenomegaly, Cardiomyopathy, Umb... |
OMIM:607014 |
Dowling-Degos Disease |
|
Abnormal fingernail morphology, Penile freckling, Pruritus, Arthritis, Acne inversa |
ORPHA:79145 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Conjunctivitis, Chronic otitis media, Sparse medial eyebrow, Recurrent ... |
OMIM:616268 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abnormality of the hypothalamus-pi... |
ORPHA:900 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Osteolysis, Arthritis,... |
ORPHA:220393 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Severe short stature, Phalangeal dislocation, Osteoarthritis, Os... |
OMIM:251450 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Hypotension, Telangiectasia macularis erupti... |
ORPHA:79455 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail d... |
ORPHA:2309 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Diabetes insipidus, Splen... |
OMIM:225750 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Renal cyst, Elevated gamma-glutamyltransferase level, Intrah... |
OMIM:614866 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Small for gestational age, Pruritus, Abnormality of the... |
ORPHA:69665 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie... |
OMIM:614564 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... |
OMIM:619774 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... |
OMIM:615512 |
Infant Botulism |
|
Ptosis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis med... |
ORPHA:178478 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Epicanthus, Hypospadias, Supernumerary nipple, Truncal obesity |
ORPHA:3224 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... |
OMIM:167730 |
Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thri... |
OMIM:300972 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Olmsted Syndrome 2 |
|
Pruritus, Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu... |
ORPHA:324 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Joint ... |
OMIM:620080 |
Paroxysmal Hemicrania |
|
Stiff neck, Palpebral edema, Diabetes mellitus, Hypertension, Rhinitis, Conjunctival hyperemia, P... |
ORPHA:157835 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congest... |
ORPHA:90033 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature |
ORPHA:3004 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Juvenile cataract, Hy... |
ORPHA:221008 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Abnormality of the... |
ORPHA:3253 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Increased bone mineral density, Cortical scl... |
OMIM:620366 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Delayed epiphyseal ossification, Disproportionate short statu... |
ORPHA:93352 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Short stature, Small for gestational age, Hip subluxation, Generalized joint laxity... |
ORPHA:93360 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... |
OMIM:610984 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis,... |
ORPHA:92050 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa, Anemia |
OMIM:608068 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Ectropion, Erythroderma |
OMIM:612281 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi... |
ORPHA:79474 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Short stature, Leukocytosis, Flexion contracture, Renal hypoplasi... |
OMIM:619321 |
Trichinellosis |
|
Skin rash, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Conj... |
ORPHA:863 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hypothyroidism, Neutro... |
OMIM:607944 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Cardiomegaly, Sparse hair, Megalocornea, Hepatomegaly, Sparse eyebrow, ... |
OMIM:252500 |
Hallermann-Streiff Syndrome |
|
Telecanthus, Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnorm... |
ORPHA:2108 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Hypersplenism, Splenomegaly, Hypoplastic toenails, Portal vein thrombosis, Umbil... |
OMIM:616028 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage |
OMIM:306700 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Alopecia totalis, Joint stiffness, Atypical scarring of skin, Nail dystrophy |
ORPHA:1366 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure |
ORPHA:2724 |
Leprosy |
|
Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Testicular mas... |
ORPHA:548 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Shallow orbits, Megalocornea, Prominent metopic ridge, Short sta... |
ORPHA:1272 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, Thoracic hypertrichosis, Hypothyroidism, Joint laxity, Hepatomegaly, Elev... |
OMIM:618268 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo... |
ORPHA:811 |
Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis, Cataract |
ORPHA:90653 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... |
ORPHA:167 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Satoyoshi Syndrome |
|
Alopecia, Short stature, Osteolytic defects of the phalanges of the hand, Genu valgum, Alopecia u... |
OMIM:600705 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp... |
ORPHA:1234 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Ankylob... |
OMIM:263650 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec... |
ORPHA:1655 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Short stature, Telangiectasia of the ... |
ORPHA:910 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... |
OMIM:605676 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Lip... |
OMIM:615947 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Alopecia, Pancytopenia, Phimosis, Urinary bladder infla... |
ORPHA:99921 |
Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... |
ORPHA:3318 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Hypertensive retinopathy, Elevated urinary catecholamine level, Pancrea... |
ORPHA:892 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoacidur... |
ORPHA:534 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Epicanthus, Failure to thrive in infancy, Joint hypermobility, Sp... |
OMIM:619418 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis, Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis |
OMIM:167100 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Lipoma, Limbal d... |
OMIM:613001 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splen... |
OMIM:613471 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Oligosacchariduria, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:158048 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Multinodular goiter, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Seborrheic dermatitis, Large for gestational age, Microvesicular h... |
OMIM:300868 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hematuria, Sparse hair |
ORPHA:1839 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm... |
ORPHA:881 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Ju... |
ORPHA:221016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... |
ORPHA:415 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Thrombocytopenia, Ocular albinism |
OMIM:614171 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Abnormal toenai... |
ORPHA:30 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Arthropathy, Epidural hemorrhage, Hip contracture, Intraventricular ... |
ORPHA:169805 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Urinary incontinence, Recurrent fractures, Osteoarthritis, Painless f... |
OMIM:608654 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ectropion |
OMIM:242510 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Splenomegaly, Upslanted palpebral fissure, Intrauteri... |
ORPHA:3035 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Hypoxemia, ... |
ORPHA:542323 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Large for gestati... |
ORPHA:544488 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Inguinal hernia, Sinusitis, Corneal opacity, Abnormality of the tonsils, Short... |
ORPHA:579 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Corneal opacity, Pruritus, Flexion contracture, Nail dystrophy, Opacifi... |
OMIM:614594 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Genu valgum, Ren... |
OMIM:307800 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Palpebral edema, Sparse eyelashes, Short stature, Sparse eyebrow, Early ba... |
ORPHA:2067 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of ... |
ORPHA:464329 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, I... |
ORPHA:411543 |
Hemifacial Atrophy, Progressive |
|
Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis |
OMIM:141300 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Short stature, Camptodactyly of finger... |
ORPHA:93473 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Pulmonic stenosis,... |
OMIM:608149 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Inguinal hernia, Short stature, Joint stiffness, Heparan sulfate excretion in urine... |
OMIM:252940 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Nephropathy, Nephritis, Decreased glomerular filtration rate |
OMIM:162000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Di... |
ORPHA:93111 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Corneal opacity, Short st... |
ORPHA:217085 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Absent eyelashes, Flexion contrac... |
ORPHA:90153 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Large vessel vasculitis, Hashimoto thyroiditis, Psoriasiform dermatitis, Unila... |
ORPHA:49041 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Short stature, Retinal telangiectasia, Postnatal growth retardation, Thrombocytopenia... |
OMIM:612199 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Congenital hip dislocation, Corneal opacity, Abnormal fingernail morphology, Congenital... |
ORPHA:1647 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Hyperphosphaturia, Corneal opacity, Short stature, Recurrent fractures, Pre... |
OMIM:163200 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Absent toenail... |
ORPHA:158687 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I... |
ORPHA:1454 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ankle swelling, Rig... |
ORPHA:99095 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep... |
ORPHA:411536 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis... |
ORPHA:90062 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Nipah Virus Disease |
|
Infectious encephalitis, Hypotension |
ORPHA:99825 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Corneal opacity, Short st... |
ORPHA:217093 |
Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Genu recurvatum, Ulnar deviation of the wrist, Irregular car... |
OMIM:177170 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypothyroidism, Obesity, Go... |
ORPHA:412 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Hypotension, Mastocytosis, Arrhyt... |
ORPHA:2135 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Absent eyebrow, Epicanthus, Curly hair, Slow-growing hair, Short stature, Hyperextens... |
OMIM:115150 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails |
OMIM:226650 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Developmental cataract, Narrow palpebral fissure, Small nail |
OMIM:614219 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis,... |
OMIM:620233 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Neutrophilia, Leukocytosis, Cyanosis |
ORPHA:1302 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Epicanthus, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, ... |
ORPHA:251066 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... |
OMIM:235255 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Alkaptonuria |
|
Joint dislocation, Myocardial infarction, Joint stiffness, Coronary artery calcification, Osteoar... |
ORPHA:56 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contract... |
OMIM:230000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypertensive crisis, Anuria, Diabetes mellitus, Pneumonia, Brain abscess, Myoca... |
ORPHA:544482 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Recurrent skin infections, Short stature, Scarring, Pruritus, Re... |
ORPHA:158668 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... |
ORPHA:2269 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Congestive heart failure, Hypercalciuria, Reduc... |
ORPHA:428 |
Hennekam Syndrome |
|
Epicanthus, Mild postnatal growth retardation, Camptodactyly of finger, Sparse axillary hair, Ect... |
ORPHA:2136 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly |
OMIM:207750 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Epicanthus, Brittle hair, Telecanthus, Alopecia, Multicystic kidne... |
ORPHA:2750 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Primary hyperparath... |
OMIM:239200 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Fibrodysplasia Ossificans Progressiva |
|
Progressive cervical vertebral spine fusion, Alopecia, Ectopic ossification in tendon tissue, Ect... |
OMIM:135100 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Abnormal salivary gland morphology, Increased corneal thickness, Abnormal ... |
ORPHA:2363 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... |
ORPHA:33226 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Vesicouret... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Vesicouret... |
ORPHA:363958 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ... |
ORPHA:978 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko... |
ORPHA:764 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Decreased skull... |
ORPHA:955 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Splenomegaly, Skin rash, Hepatomegaly |
ORPHA:53715 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Severe periodontitis, Palpebral edema, Short stature, Microcytic anem... |
ORPHA:99843 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Short stature, Splenomegaly, Jaundice, Growth delay, Nu... |
OMIM:608885 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Short stature, Highly arched eyebrow, Limitation of joint mobility, Patellar hypoplas... |
ORPHA:261279 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hepatomegaly, Tricuspid regurgitation, Short stature, Cardiomyopathy, Umbili... |
OMIM:253200 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, Decreased testicular size |
ORPHA:85279 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Dispro... |
ORPHA:89936 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cryp... |
OMIM:613451 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Renal cyst, Sparse hair, Joint laxity, Hepatomegaly, Short statur... |
OMIM:613610 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Abnormal lymphatic vessel morphology, Decrease... |
ORPHA:90362 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Childhood-onset short-trunk short stature, Cervical subluxation |
OMIM:184100 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Iron deficiency anemia, ... |
ORPHA:100075 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... |
ORPHA:97280 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Leukocytosis, Jaundice,... |
ORPHA:676 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... |
ORPHA:51636 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Myoca... |
ORPHA:3342 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Sha... |
ORPHA:740 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail, Ectropion |
OMIM:242100 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes, Lower eyelid coloboma |
OMIM:616367 |
Cockayne Syndrome B |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Spar... |
OMIM:133540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Cubitus valgus, Cryptorchidism, Flexion contracture, Upslanted palpebral fissure, ... |
OMIM:300534 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope... |
OMIM:615607 |
Stickler Syndrome, Type I |
|
Arthropathy, Cataract, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Short stature, Failure to thrive in infancy... |
OMIM:615582 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Renal insufficiency, Skin rash, Proteinuria, Orchitis,... |
ORPHA:761 |
Marshall Syndrome |
|
Cataract, Sparse eyelashes, Short stature, Ectopia lentis, Sparse eyebrow, Osteoarthritis, Genu v... |
ORPHA:560 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Pneumonia, Glomerulonephritis, Hematemesis, Thrombocytopenia, Leuk... |
ORPHA:340 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Stroke, Dec... |
ORPHA:760 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Blepharophimosis, Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat... |
OMIM:619656 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoul... |
OMIM:203500 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... |
OMIM:257220 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Thrombocyt... |
OMIM:230900 |
Meningococcal Meningitis |
|
Shock, Stiff neck, Skin rash, Stroke, Hypotension, Infectious encephalitis |
ORPHA:33475 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Postnatal growth retardation, Limitation of joint mobility, Disproportionate short-trunk short st... |
OMIM:313400 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Low a... |
ORPHA:495875 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa... |
OMIM:608013 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Nail dy... |
ORPHA:90154 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Corneal dystrophy, Upslanted palpebral fissure, Hypertension, Patchy alopecia, Spa... |
OMIM:617763 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Omphalocele, Alopecia, Multicystic kidney dysplasia, Corneal opacity, Camp... |
ORPHA:2092 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... |
OMIM:619991 |
Orofaciodigital Syndrome I |
|
Epicanthus, Telecanthus, Dry hair, Alopecia, Short stature, Proteinuria, Pancreatic cysts, Ovaria... |
OMIM:311200 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Multiple lipomas, Sparse hair, Supraventricular tachycardia, Iris coloboma, Short sta... |
OMIM:181270 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro... |
ORPHA:244242 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Cataract, Enlarged joints, Osteoarthritis, Disproportionate short ... |
ORPHA:1427 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ptosis, Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Hypoplastic fingernail |
ORPHA:257 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Palpitations, Facial telangiectasi... |
ORPHA:97287 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Epicanthus, Absent nipple, Aplasia of the thymus, Short stature, Sparse eyebr... |
OMIM:620186 |
Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger,... |
ORPHA:1507 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Skin rash, Osteoporosis |
OMIM:601979 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, L... |
ORPHA:667 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Prolonged QT i... |
ORPHA:26793 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Epicanthus, Juvenile myelomonocytic leukemia, Short stature, Hy... |
OMIM:163950 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Cockayne Syndrome A |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a... |
OMIM:216400 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue hist... |
OMIM:230600 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... |
OMIM:603860 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem... |
OMIM:619525 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, P... |
ORPHA:163746 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or... |
ORPHA:556 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agen... |
OMIM:137920 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Epispadias, Abnormal penis morphology, Alopecia, Short stature, Hypospadias,... |
ORPHA:3107 |
Acromegaly |
|
Synophrys, Osteoarthritis, Wide penis, Pituitary prolactin cell adenoma, Abnormal toenail morphol... |
ORPHA:963 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Orthostatic hypotension due to autonomic dysfu... |
ORPHA:642 |
Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Hypotension |
OMIM:615668 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Joint dislocation, Epicanthus, Inguinal hernia, Elbow dislocation, Osteoarthritis, C... |
ORPHA:285 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Congestive heart failure, Pulmonary carcinoid tumo... |
ORPHA:363618 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Osteoporosis of vertebrae, Hypotension |
ORPHA:95619 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
Mirage Syndrome |
|
Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Aspiration pneum... |
OMIM:617053 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cardiomegaly, Abnormal heart valve physiology, Hypoplasia of t... |
ORPHA:3384 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules |
OMIM:139090 |
Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicou... |
ORPHA:3455 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Synophrys, Low anterior hairline, Keratoconjunctivitis sicca, Long ey... |
OMIM:618479 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Ankylosis, Osteolysis, Sparse hair |
ORPHA:659 |
Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocal... |
OMIM:300322 |
Leukonychia Totalis |
|
Abnormal fingernail morphology, Abnormal eyelash morphology, Nephrolithiasis, Adenoma sebaceum, T... |
ORPHA:2387 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Rhizomelia, Dislocation of the femoral head, Joint stiffness, Moderately short stature, Flexion c... |
ORPHA:93307 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Aplasia... |
OMIM:149730 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis... |
ORPHA:77261 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Lacunar stroke, Alopecia, Transient ischemic attack, Urinary incontinence |
OMIM:600142 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Inguinal hernia, Short stature, Hypospadias, Delayed cranial suture closure... |
OMIM:611962 |
Doors Syndrome |
|
Thrombocytosis, Double outlet right ventricle, Sagittal craniosynostosis, Aspiration pneumonia |
ORPHA:79500 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Severe short stature, Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral... |
ORPHA:93314 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Hyperextensibility of the finger joints, Cataract, Thick hair, Highly arched eyebro... |
OMIM:135500 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ... |
OMIM:612132 |
Hydroxykynureninuria |
|
Stomatitis, Tachycardia, Hypotension |
ORPHA:79155 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... |
ORPHA:284984 |
Adrenoleukodystrophy |
|
Alopecia, Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Urinary bladder sphi... |
OMIM:300100 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Limited elbow extension, Rhizomelia, Genu varum |
OMIM:602111 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule, Abnormality of the adrenal gla... |
ORPHA:68 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Alopecia, Congenital hip dislocation, Short stature, Unilateral renal agenesi... |
OMIM:308050 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Ketonuria, Tachycardia, Elevated circulating aspartate a... |
ORPHA:466677 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Biliary atresia, Intrauterine growth retardation, Micropenis, Amelog... |
ORPHA:3310 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Lymphadenopathy, Weight loss, Nephrotic syndrome, Nephropathy, Acute ki... |
ORPHA:29073 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Craniofacial... |
ORPHA:1328 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... |
OMIM:618278 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased respons... |
ORPHA:3464 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Iron deficiency anemia, Palpit... |
ORPHA:100078 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Short stature, Splenomegaly, Limitation of joint ... |
ORPHA:580 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Disproportionate short... |
OMIM:602557 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Micropenis, Hypothyroidism, Abnormali... |
OMIM:243800 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... |
ORPHA:79233 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... |
OMIM:153670 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Osteopetrosis, Anemia |
OMIM:612301 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Gastritis, Congestive h... |
ORPHA:31826 |
Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Macroorchidism, Joint stiffness, Splenomeg... |
ORPHA:93 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Short stature, Delayed cranial suture closure, Developmental cat... |
OMIM:601088 |
Vici Syndrome |
|
Decreased circulating IgG level, Congestive heart failure, Decreased circulating IgG2 level, Dila... |
OMIM:242840 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
OMIM:607625 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Short stature, Flexion contracture, Premature osteoarthritis, Recurrent pneumonia |
OMIM:215150 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Interstitial pneumonitis, Hypotension |
ORPHA:330021 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Abnormality of the... |
ORPHA:744 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Short stature, Osteoarthritis, Subdural hemorrhage, Intrauterine growth retardation, High anterio... |
OMIM:619714 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short stature, Autoimmune... |
ORPHA:77293 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma, Mitr... |
OMIM:231005 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join... |
OMIM:250250 |
Somatomammotropinoma |
|
Diabetes mellitus, Palpebral edema, Abnormal fingernail morphology, Dysuria, Elevated circulating... |
ORPHA:314769 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Cataract, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Growth delay, N... |
OMIM:617913 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyeli... |
ORPHA:2396 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Genu recurvatum, Growth delay, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Growth delay, Hypertrophic cardiomyopathy, Conjunctival hyperemia, Highly arched eyebrow |
OMIM:619121 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Dislocated radial ... |
ORPHA:666 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556037 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Vacuolated lymphocytes, Hypovo... |
ORPHA:275761 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct... |
ORPHA:90068 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis |
ORPHA:158000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi... |
OMIM:604292 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spl... |
ORPHA:2072 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556030 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis |
OMIM:116920 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
Renal Tubular Dysgenesis |
|
Hypotension, Widely patent fontanelles and sutures |
OMIM:267430 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Delayed cranial sutu... |
OMIM:620005 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Leukocytosis, Peritonitis, Schi... |
ORPHA:90038 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the... |
ORPHA:2306 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Conge... |
ORPHA:373 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... |
ORPHA:273 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Hypotension |
ORPHA:439822 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Supraventricular arrhythmia, Hematemesis, Leu... |
ORPHA:99829 |
Urachal Cyst |
|
Abdominal mass, Dysuria, Abscess, Pyuria, Leukocytosis, Peritonitis, Hematuria |
ORPHA:488 |
Stickler Syndrome |
|
Joint dislocation, Epicanthus, Telecanthus, Cataract, Short stature, Protrusio acetabuli, Ectopia... |
ORPHA:828 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Delayed closure of the a... |
OMIM:618460 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Di... |
ORPHA:287 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Keloids, Joint hyperflexibility, Umbilical hernia, Thick eyebrow |
ORPHA:96129 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi... |
OMIM:129900 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Renal hypoplasia |
OMIM:612918 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint... |
OMIM:613795 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Hypocapnia, Abnormal T-wave, Abnormal ... |
ORPHA:466650 |
Lymphatic Malformation 6 |
|
Epicanthus, Short stature, Splenomegaly, Hydrocele testis, Cellulitis, Intestinal lymphangiectasi... |
OMIM:616843 |
Poliomyelitis |
|
Stiff neck, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Hypothyroidism, Joint laxity, A... |
OMIM:619472 |
Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Hypotension |
ORPHA:95613 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
Woodhouse-Sakati Syndrome |
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Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ... |
OMIM:241080 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Alopecia, Severe short stature, Hydroureter, Abnormally ossified vertebrae, Osteomala... |
ORPHA:2636 |
Acute Adrenal Insufficiency |
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Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Stroke, Hypotension |
ORPHA:95409 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
Idiopathic Camptocormia |
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Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis |
ORPHA:1320 |
Sunct Syndrome |
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Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:57145 |
Phacoanaphylactic Uveitis |
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Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Okamoto Syndrome |
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Facial hypertrichosis, Omphalocele, Prominent metopic ridge, Urinary incontinence, Splenomegaly, ... |
ORPHA:2729 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... |
ORPHA:93317 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgG1 level, Right ventricular failure, Decreased circulating antibody level... |
ORPHA:90363 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Vascular Ehlers-Danlos Syndrome |
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Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Periodo... |
ORPHA:286 |
Cholera |
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Tachycardia, Hypovolemic shock, Stroke, Hypotension, Aspiration pneumonia |
ORPHA:173 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... |
ORPHA:116 |
Intermediate Uveitis |
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Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Sympathetic Ophthalmia |
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Alopecia, Cataract, Poliosis, Retinal hemorrhage, Posterior synechiae of the anterior chamber, Po... |
ORPHA:79098 |
Ring Chromosome 13 Syndrome |
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Alopecia, Epicanthus, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Urogenital sinus ... |
ORPHA:96176 |
Non-Functioning Pituitary Adenoma |
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Anemia of inadequate production, Hypotension |
ORPHA:91349 |
Serotonin Syndrome |
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Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Multiple Osteochondromas |
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Abnormality of the knee, Short stature, Limitation of joint mobility, Abnormal carpal morphology,... |
ORPHA:321 |
Familial Hypoaldosteronism |
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Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
Uremic Pruritus |
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Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease... |
ORPHA:94059 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Microcorn... |
ORPHA:199 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Anterior pituitary hypoplasia, Knee dislocation, Hepatic fibrosis, Elevated gamma-glu... |
OMIM:619534 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Arthritis, Onychogryposis, ... |
OMIM:161700 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Horseshoe kidney, Aplasia of the epiglotti... |
OMIM:617088 |
Lambert-Eaton Myasthenic Syndrome |
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Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Abnormality of ... |
ORPHA:43393 |
Phakomatosis Pigmentokeratotica |
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Raynaud phenomenon, Cryptorchidism, Precocious puberty, Unilateral renal hypoplasia, Patchy alope... |
ORPHA:2874 |
Marfan Syndrome |
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Aortic regurgitation, Reduced subcutaneous adipose tissue, Cataract, Genu recurvatum, Protrusio a... |
OMIM:154700 |
Pmm2-Cdg |
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Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Gitelman Syndrome |
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Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Chondrocalcinosis |
OMIM:263800 |
Addison Disease |
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Normocytic anemia, Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Hypotension... |
ORPHA:85138 |
Hughes-Stovin Syndrome |
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Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
Alexander Disease |
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Osteopenia, Sudden cardiac death, Hypertension, Hypotension, Infectious encephalitis |
ORPHA:58 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Hypertension, Progressive flexion contractures, Hypothyroidism, Rheumatoid arthritis |
ORPHA:98808 |
Ramon Syndrome |
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Short stature, Telangiectasia, Decreased body weight, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,... |
ORPHA:365 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Rhizomelia, Myocarditis, Delayed epiphyseal ossification, Disproportionate short stature, Flat ac... |
OMIM:250220 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Prolactinoma |
|
Osteopenia, Osteoporosis, Hypotension |
ORPHA:2965 |
Marfan Syndrome |
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Osteopenia, Inguinal hernia, Arthralgia/arthritis, Flat cornea, Protrusio acetabuli, Limited elbo... |
ORPHA:558 |
Classic Progressive Supranuclear Palsy Syndrome |
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Blepharospasm, Conjunctival hyperemia |
ORPHA:240071 |
Focal Dermal Hypoplasia |
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Ridged nail, Ureteral duplication, Brittle hair, Congenital hip dislocation, Congenital diaphragm... |
OMIM:305600 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Cam... |
OMIM:601803 |
Tsh-Secreting Pituitary Adenoma |
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Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Hypertension, Pa... |
ORPHA:91347 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Adams-Oliver Syndrome 1 |
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Alopecia, Supernumerary nipple, Hypertension, Pulmonic stenosis, Small nail, Pulmonary arterial h... |
OMIM:100300 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Osteoporosis, Hypovolemia, Hypotension, Reduced bone mineral density |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Osteoporosis, Hypovolemia, Hypotension, Reduced bone mineral density |
ORPHA:289548 |
Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... |
ORPHA:97214 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Acne, Hypovolemia, Hypotension, Hypocapnia |
ORPHA:90794 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Osteoporosis of vertebrae, Hypotension |
ORPHA:90695 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Chondrocalcinosis, Impaired platelet aggregation, Low-to-normal blood pressure |
OMIM:241200 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Chondrocalcinosis, Low-to-normal blood pressure |
OMIM:601678 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Osteoporosis of vertebrae, Hypotension |
ORPHA:95494 |