Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Hyperkerat... |
ORPHA:2584 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Abnormal lymph... |
OMIM:612840 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom... |
ORPHA:824 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplantar keratoderma, Nail d... |
ORPHA:3162 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, General... |
OMIM:615559 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Porphyria Cutanea Tarda |
|
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis |
OMIM:176100 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Palmoplantar keratoderma, Nai... |
ORPHA:2890 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyper... |
ORPHA:317 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopathy, Anem... |
ORPHA:39041 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... |
ORPHA:2251 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Scaling skin on fingertip, Palmoplantar hyperkeratosis, Honeycomb palmop... |
ORPHA:79395 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Anemi... |
ORPHA:2930 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L... |
OMIM:275400 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho... |
ORPHA:75564 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
Prolidase Deficiency |
|
Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin... |
ORPHA:742 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg... |
OMIM:170100 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia |
OMIM:615704 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Pyoderma gangrenosum, Lymphadenopathy, B lymph... |
OMIM:150550 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of... |
ORPHA:169154 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... |
ORPHA:2269 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Anemia |
ORPHA:337 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity |
ORPHA:1366 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... |
ORPHA:494 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... |
ORPHA:3363 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cirrhosis, Hep... |
OMIM:235200 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Nail dystrophy, ... |
ORPHA:100976 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla... |
OMIM:612843 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Abnormality... |
ORPHA:91138 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia |
ORPHA:33355 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis |
OMIM:604416 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism |
OMIM:612526 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
X-Linked Agammaglobulinemia |
|
Alopecia, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepa... |
ORPHA:47 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, ... |
OMIM:618373 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Isolated Agammaglobulinemia |
|
Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp... |
ORPHA:229717 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair |
ORPHA:50812 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer |
OMIM:610448 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Ascites, Skin ulcer, Hepatomegaly |
ORPHA:834 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Generalized hirsutism, Abnormality of the tonsils |
ORPHA:93476 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy... |
OMIM:304790 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... |
ORPHA:158029 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Excessiv... |
ORPHA:3051 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Increased mean pl... |
OMIM:314050 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly |
ORPHA:313855 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura |
OMIM:620296 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer, Fine hair |
ORPHA:2500 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ... |
OMIM:127550 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Ollier Disease |
|
Lymphangioma, Skin ulcer, Anemia |
ORPHA:296 |
Chilblain Lupus |
|
Hyperkeratosis, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Nail pits, Fin... |
OMIM:308300 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Palmoplantar keratoderma... |
OMIM:242100 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Skin vesicle, Sparse hair, Hep... |
ORPHA:1775 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:858 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... |
OMIM:137940 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ... |
ORPHA:659 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Thick hair, Splenomegaly, Cirrhosis, Hepatic failure |
OMIM:613489 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:809 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia |
OMIM:247100 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath... |
ORPHA:379 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi... |
OMIM:603909 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le... |
OMIM:613990 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Fair hair |
OMIM:269920 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424019 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Par... |
ORPHA:398124 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Palmoplantar keratoderma, Cirrhosis, Sparse hair, Fragil... |
OMIM:242150 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Skin u... |
ORPHA:79493 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... |
OMIM:614602 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer |
ORPHA:312 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Dry skin, Perioral erythema, Alopecia ... |
OMIM:201100 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Alopecia, Increased mean platelet volume |
OMIM:617443 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exo... |
OMIM:269200 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Tangier Disease |
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Hepatomegaly, Splenomegaly, Nail dystrophy, Nail dysplasia, Left ventricular hypertrophy, Dry skin |
OMIM:205400 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
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Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
Mucopolysaccharidosis, Type Iiia |
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Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Lymphadenopathy |
OMIM:212050 |
Gray Platelet Syndrome |
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Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Ectodermal Dysplasia-Blindness Syndrome |
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Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Menkes Disease |
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Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
Glycogen Storage Disease Ixb |
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Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy |
OMIM:619183 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As... |
OMIM:614034 |
Flynn-Aird Syndrome |
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Alopecia, Skin ulcer |
ORPHA:2047 |
Congenital Ichthyosiform Erythroderma |
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Alopecia, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:79394 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
Porphyria, Congenital Erythropoietic |
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Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash... |
OMIM:263700 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Alpha-1-Antitrypsin Deficiency |
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Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Acral ulceration, Skin ulcer |
ORPHA:139578 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Immunodeficiency 54 |
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Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Neuropathy, Hereditary Sensory, Type Iic |
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Acral ulceration |
OMIM:614213 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Harderoporphyria |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Rapp-Hodgkin Syndrome |
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Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Familial Cold Autoinflammatory Syndrome 2 |
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Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Myelofibrosis |
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Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Pseudomyxoma Peritonei |
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Lymphadenopathy |
ORPHA:26790 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
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Sparse hair, Bone marrow hypocellularity, Alopecia, Nail dystrophy |
OMIM:616353 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Palmoplantar hyperker... |
OMIM:617388 |
Hereditary Bullous Dystrophy, Macular Type |
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Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Nail dystrophy, Atrichia, Decreased t... |
ORPHA:1867 |
Hypomelanosis Of Ito |
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Alopecia |
OMIM:300337 |
Caspase 8 Deficiency |
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Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Mucopolysaccharidosis, Type Iiic |
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Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Splenomegaly,... |
ORPHA:50918 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Transaldolase Deficiency |
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Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Micronodular cirrhosis, Thrombocytopenia, He... |
OMIM:606003 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Mogs-Cdg |
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Hepatomegaly, Alopecia, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Hydrocele testis, Lon... |
ORPHA:79330 |
Desmoplastic Small Round Cell Tumor |
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Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Necrobiosis Lipoidica |
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Erythema, Skin ulcer, Abnormality of neutrophil physiology |
ORPHA:542592 |
Gaucher Disease, Type Iii |
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Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Congenital Disorder Of Glycosylation, Type Im |
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Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Dry skin |
OMIM:610768 |
Chronic Mucocutaneous Candidiasis |
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Abnormal fingernail morphology, Erythema, Broad nail, Hepatitis, Skin ulcer, Hyperkeratosis, Abno... |
ORPHA:1334 |
Adams-Oliver Syndrome |
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Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... |
ORPHA:974 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Immunodeficiency 32B |
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Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Alopecia, Dry skin, Eosinophilia |
OMIM:618282 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
Niemann-Pick Disease, Type A |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Acrodermatitis Enteropathica |
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Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing... |
ORPHA:37 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Renpenning Syndrome |
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Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow |
ORPHA:3242 |
Wolman Disease |
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Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Thrombocythemia 1 |
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Splenomegaly, Thrombocytosis |
OMIM:187950 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... |
ORPHA:75389 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Papa Syndrome |
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Skin ulcer, Lymphadenopathy |
ORPHA:69126 |
Middle Ear Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Sialuria |
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Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized h... |
OMIM:269921 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Alopecia |
OMIM:215100 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Alopecia, Chronic active hepatitis, Asplenia, Nail dystrophy, Cholelithiasis,... |
OMIM:240300 |
Aplasia Cutis Congenita |
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Skin ulcer |
ORPHA:1114 |
Macrophage Activation Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
ORPHA:158061 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia |
OMIM:164180 |
Biotinidase Deficiency |
|
Splenomegaly, Alopecia, Hepatomegaly |
OMIM:253260 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
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Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Neoplasm of the pancreas, Skin ulcer |
ORPHA:2591 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... |
OMIM:615688 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Jaundice,... |
ORPHA:540 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Thrombocytopeni... |
ORPHA:905 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, S... |
OMIM:158310 |
Acute Radiation Syndrome |
|
Skin ulcer, Hyperkeratosis, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Meige Disease |
|
Lymph node hypoplasia, Cobblestone-like hyperkeratosis, Skin ulcer, Absence of lymph node germina... |
ORPHA:90186 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, T... |
ORPHA:93552 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Hepatomegaly |
OMIM:618541 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Penetrat... |
ORPHA:548 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail |
ORPHA:1657 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Cutis laxa, Hydrocele testis, Coarse hair, Lymphopenia |
OMIM:605309 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Dry skin |
OMIM:612132 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Lymp... |
ORPHA:168569 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Werner Syndrome |
|
Sparse scalp hair, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Pr... |
ORPHA:902 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Abnormal granulocy... |
ORPHA:98907 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, Absent toenail, Absent fingernail, ... |
ORPHA:158687 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails |
ORPHA:2314 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites |
ORPHA:779 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Erythema, Low anterior hairline, Acute ... |
ORPHA:99812 |
Tarp Syndrome |
|
Cryptorchidism, Thick eyebrow, Extramedullary hematopoiesis, Abnormal hair pattern |
ORPHA:2886 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph... |
ORPHA:464 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Small pituitary gland |
OMIM:612079 |
Aredyld Syndrome |
|
Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly |
ORPHA:1133 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Na... |
OMIM:230740 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
ORPHA:79242 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy |
ORPHA:3386 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Thymoma, Hepatitis, ... |
ORPHA:227990 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Takayasu Arteritis |
|
Skin ulcer, Anemia |
ORPHA:3287 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology, Hyperkeratosis |
ORPHA:1005 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern, Abnormality of the pancreas, Anemia, Exocrine pancreatic insuffi... |
ORPHA:2315 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary ... |
ORPHA:227982 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure |
ORPHA:664 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas... |
OMIM:615895 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia... |
ORPHA:37042 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia |
ORPHA:3143 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Sparse eyebrow, Splenomegaly, Low posterior hairline, Leukopenia, Hyperke... |
OMIM:604173 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Decreased respon... |
OMIM:203800 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Microcytic anemia, Low posteri... |
ORPHA:2959 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Alopecia, Hepatic failure, Skin ulcer |
ORPHA:397 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Hepatoblastoma, Increased m... |
ORPHA:84064 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Cutis laxa, Sparse hair |
OMIM:613075 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... |
ORPHA:486 |
Adams-Oliver Syndrome 6 |
|
Hypoplastic toenails, Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec... |
OMIM:235255 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Bresek Syndrome |
|
Cryptorchidism, Alopecia, Decreased testicular size |
ORPHA:85284 |
Monosomy 18P |
|
Alopecia, Low posterior hairline |
ORPHA:1598 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220402 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Hirsutism |
OMIM:615830 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Alopecia, Fine hair |
ORPHA:228390 |
Acquired Purpura Fulminans |
|
Hepatic failure, Pyoderma gangrenosum, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Pyoderma Gangrenosum |
|
Skin vesicle, Myeloid leukemia, Skin ulcer |
ORPHA:48104 |
Adams-Oliver Syndrome 5 |
|
Hypoplastic toenails, Splenomegaly, Hypersplenism, Portal vein thrombosis, Right ventricular hype... |
OMIM:616028 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Erythema, Hepatomegaly |
ORPHA:33577 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology |
ORPHA:3453 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym... |
OMIM:153670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Alopecia totalis, Thrombocytopenia |
OMIM:618775 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Pancreatitis |
ORPHA:412057 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pul... |
ORPHA:1655 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia |
ORPHA:3163 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Pituitary adenoma, Primary hyperparathyroidism, Macronodular adrenal ... |
ORPHA:189427 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Decreased testicular size, Anemia |
OMIM:620040 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,... |
ORPHA:77259 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Hepatomegaly, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomeg... |
OMIM:222470 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia |
ORPHA:90153 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... |
OMIM:616005 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... |
ORPHA:3130 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... |
OMIM:106260 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundi... |
OMIM:603553 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis |
OMIM:212750 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Erythema, Skin ulcer, Anemia,... |
ORPHA:537 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Patchy alopecia, Decreased testicular size |
ORPHA:85279 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail |
ORPHA:166035 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p... |
ORPHA:2232 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Fine hair, Cutis laxa, Leukopenia, Hemophagocytosis... |
OMIM:222700 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym... |
OMIM:617591 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Erythema, Onychogryposis, Palmoplantar keratoderma, Nail dystrophy, Anemia |
ORPHA:79396 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Aplastic anemia, Sparse eyebrow, Neut... |
ORPHA:2909 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Abnormal fingernail morphology, Abnormal hair pattern, Elev... |
ORPHA:2796 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio, Splenomegaly, He... |
OMIM:608233 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Thromb... |
OMIM:305000 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Fusariosis |
|
Abnormality of the spleen, Paronychia, Peritonitis, Skin ulcer, Abnormality of the liver, Neutrop... |
ORPHA:228119 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... |
ORPHA:363618 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Ski... |
ORPHA:955 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails |
OMIM:245660 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Skin ulcer, Macular purpura, Ecchymosis, Polycythemia, Anemia |
ORPHA:542643 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
OMIM:253270 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Severe B lymphocytopenia, Alopecia totalis, Decreased response to growth hormone stimul... |
ORPHA:293978 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R... |
ORPHA:157954 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia |
ORPHA:453533 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Aplastic anemia, Alopecia totalis, Cryptorchidism, Facial erythema, Anemi... |
ORPHA:221008 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Aplastic anemia, Alopecia totalis, Cryptorchidism, Erythema, Facial eryth... |
ORPHA:221016 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Erythema, Hyperkeratosis, Small nail, Orthokeratosis, Thyroid hypoplasia |
OMIM:308050 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:1572 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Gapo Syndrome |
|
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes |
ORPHA:2067 |
Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:3474 |
Calciphylaxis |
|
Skin ulcer, Secondary hyperparathyroidism |
ORPHA:280062 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hyperkeratosis, Splenomegaly, Neutrophilia, Hepatomegaly |
OMIM:612852 |
Leigh Syndrome |
|
Alopecia, Neutropenia, Frontal hirsutism, Hepatic failure, Anemia, Hypertrichosis |
ORPHA:506 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424016 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Juvenile Dermatomyositis |
|
Alopecia, Dry skin, Erythema, Skin ulcer |
ORPHA:93672 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin |
OMIM:614008 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea... |
OMIM:602782 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... |
ORPHA:2108 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test |
OMIM:615577 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Skin ulcer, Polycystic ovaries |
ORPHA:2176 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Lack of skin ela... |
ORPHA:79474 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Onychogryposis, Hepatomegaly |
OMIM:248370 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Skin ulcer, Hepatospleno... |
ORPHA:2072 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Skin ulcer, Lymphadeno... |
ORPHA:289390 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:160 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Enlarged polycystic ovaries, Thrombocytopenia, Biliary cirrhosis, Pol... |
ORPHA:2298 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Blau Syndrome |
|
Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Abnormality of the liver, Abnormal salivary ... |
ORPHA:90340 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism |
ORPHA:93160 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:158048 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair |
OMIM:613451 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Pancreatic cysts, Abnormality of the pancr... |
ORPHA:2750 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Scaling skin, Sparse hair, A... |
ORPHA:158668 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Microscopic Polyangiitis |
|
Peritonitis, Erythema, Pancreatitis, Skin ulcer |
ORPHA:727 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Erythema, Hepatomegaly |
ORPHA:53715 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocy... |
ORPHA:797 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy |
ORPHA:90154 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca... |
ORPHA:2526 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Skin ulcer, Palmoplantar hyperkeratosis, Nail dystrophy, Dystrophic fingernails, Dystro... |
ORPHA:2907 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ... |
OMIM:308205 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Digital ulcer, Acral ulceration |
ORPHA:90291 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia |
OMIM:163200 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, L... |
ORPHA:96253 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Bilateral crypto... |
OMIM:263650 |
Xeroderma Pigmentosum |
|
Alopecia, Cryptorchidism, Erythema, Hyperkeratosis, Dry skin, Decreased testicular size |
ORPHA:910 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Hepatic cysts |
OMIM:311200 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Pallor, Anemia |
ORPHA:667 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Alopecia universalis |
OMIM:277440 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Alopecia, Erythema, Abnormality of the nail |
ORPHA:2092 |
Legionnaires Disease |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Testicular adrenal rest tumor, Hirsutism, Polycystic ovaries |
ORPHA:90795 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke... |
ORPHA:3243 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, Abnormali... |
ORPHA:221 |
Malakoplakia |
|
Orchitis, Skin ulcer, Follicular hyperplasia |
ORPHA:556 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia |
OMIM:613001 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Premature gray... |
ORPHA:163746 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Colchicine Poisoning |
|
Leukocytosis, Alopecia |
ORPHA:31824 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Alopecia, Pancytopenia, Erythema, Skin ulcer, Onycholysis, Nail dy... |
ORPHA:99921 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Alopecia, Redundant skin |
ORPHA:536532 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... |
OMIM:276700 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Striae distensae, Pancreatobla... |
ORPHA:99889 |
Plague |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Skin ulcer, Enlarged mesenteric lymph node, Dry skin |
ORPHA:707 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... |
ORPHA:731 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:610377 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220393 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries... |
OMIM:608594 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
Relapsing Polychondritis |
|
Alopecia, Erythema, Hepatitis, Purpura |
ORPHA:728 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:267700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Skin ulcer |
OMIM:116920 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Sympathetic Ophthalmia |
|
Alopecia, Erythema, Poliosis |
ORPHA:79098 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal pro... |
ORPHA:3385 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer |
OMIM:608710 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Adenoma sebaceum |
ORPHA:2612 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Thrombocytopenia, Cryptorchidism, Skin ulcer, Fine hair, ... |
ORPHA:534 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology |
ORPHA:90307 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid... |
ORPHA:363958 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Scaling skin, Decr... |
ORPHA:3464 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Autosomal Recessive Robinow Syndrome |
|
Cryptorchidism, Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail, Anemia |
ORPHA:79404 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Decreased testicular size, Fine hair |
OMIM:241080 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Trichiasis, Acantholysis, Skin ulcer, Nail dystrophy, Neutropenia,... |
ORPHA:95455 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai... |
ORPHA:3107 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, In... |
ORPHA:881 |
Immunoglobulin A Vasculitis |
|
Orchitis, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Skin ulcer |
ORPHA:68 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Paronychi... |
ORPHA:125 |
Poems Syndrome |
|
Lymphadenopathy |
ORPHA:2905 |
Behcet Syndrome |
|
Erythema, Patchy alopecia |
OMIM:109650 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Pancreatitis, Skin ulcer, Purpura |
ORPHA:900 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Purpura, Acral ulceration, Chronic lymphatic leukemia |
ORPHA:91139 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Decreased response to growth hormone stimulation test, E... |
ORPHA:273 |
Q Fever |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Hennekam Syndrome |
|
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy |
ORPHA:2136 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Leukocytosis, Recurrent tonsillitis, Peri... |
ORPHA:2968 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Selective Igm Deficiency |
|
Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy |
ORPHA:538 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Immunodeficiency 31C |
|
Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... |
ORPHA:3261 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder |
ORPHA:96176 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Lack of skin elasticity, Patchy alopecia, Pr... |
ORPHA:740 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:228123 |
Familial Mediterranean Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Hypereosinophilia, Cutis laxa, Hirsutism, Right ventricular hypertrophy |
OMIM:619472 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidis... |
ORPHA:286 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Brucellosis |
|
Hypersplenism, Splenomegaly, Lymphadenopathy |
ORPHA:1304 |
Behçet Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619381 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:256040 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Lymphadenopathy |
ORPHA:449395 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy |
ORPHA:449563 |
Crimean-Congo Hemorrhagic Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:99827 |
Marburg Hemorrhagic Fever |
|
Lymphadenopathy |
ORPHA:99826 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Leptospirosis |
|
Lymphadenopathy |
ORPHA:509 |