Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Diamond-Blackfan Anemia 17 |
|
Anemia, Hyperpigmentation of the skin |
OMIM:617409 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Immunodeficiency 69 |
|
Fever, Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, BC... |
OMIM:618963 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Autoinflammation With Infantile Enterocolitis |
|
Fever, Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Re... |
OMIM:616050 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Inc... |
OMIM:300635 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre... |
ORPHA:859 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... |
ORPHA:572 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc... |
OMIM:613101 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia |
OMIM:610798 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagoc... |
OMIM:608898 |
Immunodeficiency 105 |
|
Fever, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Lymphopenia, Dec... |
OMIM:619924 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... |
OMIM:607624 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weight loss, Leukop... |
ORPHA:507 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... |
ORPHA:75564 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Bone marrow maturation arrest, Recurrent bacterial infections, ... |
OMIM:616022 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,... |
ORPHA:170 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Adult Idiopathic Neutropenia |
|
Fever, Granulocytic hypoplasia, Bone marrow hypercellularity, Helicobacter pylori infection, Abno... |
ORPHA:2688 |
Lymphoproliferative Syndrome 2 |
|
Fever, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent ... |
OMIM:615122 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Whim Syndrome 1 |
|
Bone marrow hypercellularity, Myelokathexis, Recurrent upper respiratory tract infections, Decrea... |
OMIM:193670 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency 32B |
|
Fever, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomega... |
OMIM:226990 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... |
OMIM:300400 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... |
OMIM:618986 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:603552 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Fever, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv... |
ORPHA:158057 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... |
OMIM:619041 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... |
ORPHA:318 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... |
ORPHA:158048 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... |
OMIM:615559 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Whim Syndrome 2 |
|
Myelokathexis, Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks, Eosinophilia |
OMIM:614323 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Bone marrow maturation arrest, Neutropenia |
OMIM:617014 |
Immunodeficiency 60 And Autoimmunity |
|
Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating tota... |
OMIM:618394 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticulocytopenia, Mega... |
OMIM:275350 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Fever, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, In... |
OMIM:603553 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Aregenerative Anemia |
|
Fever, Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopeni... |
ORPHA:101096 |
Diamond-Blackfan Anemia 18 |
|
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Reticular Dysgenesis |
|
Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulatin... |
ORPHA:33355 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen... |
OMIM:617872 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Failure to thrive, Panhypogammaglobulinemia, Recurrent infections |
ORPHA:251009 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Cyclic Neutropenia |
|
Fever, Cyclic neutropenia |
OMIM:162800 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
Malaria |
|
Fever, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombo... |
ORPHA:673 |
Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia |
OMIM:243500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Congenital Enterovirus Infection |
|
Fever, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leukocytosis, Sepsis, Hyper... |
ORPHA:292 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia |
OMIM:602079 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Immunodeficiency 21 |
|
Megakaryocyte nucleus hypolobulation, Aplastic anemia, Recurrent viral infections, B lymphocytope... |
OMIM:614172 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Thrombocytopenia 2 |
|
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Mu-Heavy Chain Disease |
|
Fever, Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Ab... |
ORPHA:100024 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenome... |
OMIM:618398 |
Immunodeficiency 27A |
|
Fever, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG lev... |
OMIM:209950 |
Autoinflammatory-Pancytopenia Syndrome |
|
Fever, Pancytopenia, Hepatosplenomegaly, Granuloma, Hemophagocytosis, Severe Epstein Barr virus i... |
OMIM:619858 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Fever, Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased ... |
OMIM:618048 |
Primary Myelofibrosis |
|
Fever, Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thromb... |
ORPHA:824 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneu... |
OMIM:301078 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, C... |
OMIM:614700 |
X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Weig... |
ORPHA:47 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Failure to... |
OMIM:229050 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural k... |
ORPHA:540 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Sepsis, Hyperammonemia, Neutropenia, Lethargy, Anemia |
ORPHA:289916 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... |
ORPHA:79397 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Abnormality of thrombocytes, Hypothermia |
ORPHA:90026 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Lethargy, Failure to thrive, Anemia |
ORPHA:79312 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Lethargy, Failure t... |
OMIM:606054 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Inappropriate... |
OMIM:618944 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell function, Splen... |
OMIM:614576 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia |
OMIM:615026 |
Griscelli Syndrome Type 2 |
|
Fever, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia,... |
OMIM:613179 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Depression, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... |
ORPHA:33445 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... |
OMIM:277380 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Fever, Acute myeloid leukemia, Anemia of inadequate p... |
ORPHA:86839 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Albinism... |
OMIM:608233 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Macrophage Activation Syndrome |
|
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulat... |
ORPHA:158061 |
Mantle Cell Lymphoma |
|
Fever, Splenomegaly, Weight loss, Abnormal bone marrow cell morphology |
ORPHA:52416 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... |
OMIM:617514 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... |
OMIM:618116 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... |
ORPHA:88 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Hyperhomocystinemi... |
ORPHA:2169 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Fever, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia,... |
ORPHA:486 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ... |
OMIM:607616 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... |
OMIM:203300 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Hypermelanotic macule |
OMIM:154800 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Hypopigmentation of the skin |
OMIM:617294 |
Schimke Immunoosseous Dysplasia |
|
Fever, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytopenia, ... |
OMIM:242900 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo... |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... |
OMIM:603585 |
Acute Promyelocytic Leukemia |
|
Fever, Bone marrow hypercellularity, Pancytopenia, Chronic infection, Thrombocytopenia, Leukocyto... |
ORPHA:520 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Central Diabetes Insipidus |
|
Hyponatremia, Fever, Weight loss, Depression, Lethargy, Failure to thrive |
ORPHA:178029 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Bone marrow maturation arrest, Recurrent pneumonia, Sepsis, ... |
OMIM:617475 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Hyperhomocyst... |
OMIM:236270 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Recurrent opportunistic infections, Increased circulating IgE level, Recurrent... |
ORPHA:277 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... |
OMIM:619752 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Autosomal Agammaglobulinemia |
|
Fever, Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutro... |
ORPHA:33110 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia |
OMIM:614743 |
Immunodeficiency 91 And Hyperinflammation |
|
Megakaryocytopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Thromboc... |
OMIM:619644 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251100 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Unexplai... |
OMIM:614727 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Pulmonary Blastoma |
|
Fever, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Megaloblastic bone marrow |
ORPHA:79283 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... |
ORPHA:811 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Lethargy, Anemia |
ORPHA:27 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Dengue Fever |
|
Fever, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Megaloblastic bone marrow |
ORPHA:622 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... |
OMIM:616576 |
Ebola Hemorrhagic Fever |
|
Fever, Sepsis, Leukopenia, Increased circulating antibody level, Lethargy, Lymphopenia, Thrombocy... |
ORPHA:319218 |
Immunodeficiency 22 |
|
Fever, Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections... |
OMIM:615758 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95717 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Lethargy, Failu... |
OMIM:251000 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane... |
OMIM:304790 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Prolonged bleeding time, Cryptorchidism |
ORPHA:638 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Meningococcal Meningitis |
|
Fever, Hypothermia, Elevated circulating C-reactive protein concentration, Sepsis, Lethargy, Infe... |
ORPHA:33475 |
Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Recurrent infections, Hyperuricemia, Neutropenia, ... |
OMIM:617056 |
Thymoma |
|
Fever, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lympho... |
ORPHA:99867 |
Necrotizing Enterocolitis |
|
Hyponatremia, Neonatal sepsis, Small for gestational age, Leukocytosis, Neutropenia, Lethargy, Te... |
ORPHA:391673 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... |
OMIM:615688 |
Staphylococcal Necrotizing Pneumonia |
|
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe ... |
ORPHA:36238 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Megaloblastic bone marrow |
ORPHA:26 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive... |
OMIM:619693 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal ... |
ORPHA:3437 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Fanconi-Like Syndrome |
|
Recurrent lower respiratory tract infections, Pancytopenia |
OMIM:227850 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, Lethargy |
OMIM:602390 |
Felty Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... |
ORPHA:47612 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Profuse pigmented skin lesions |
ORPHA:280785 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Hypothermia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Lethargy, Hyperuricemi... |
ORPHA:20 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:89838 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Fever, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concen... |
ORPHA:54251 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive, Abscess, Eosinophilia, Rec... |
OMIM:615816 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95716 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... |
OMIM:557000 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... |
ORPHA:86841 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Lethargy, Hyperammonemia, Weight loss |
ORPHA:79242 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia |
OMIM:614742 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... |
OMIM:615387 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Failure to t... |
OMIM:613989 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Failure to thrive |
ORPHA:26792 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio, Bone marrow ... |
OMIM:300299 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Lethargy, Abnormality of cir... |
ORPHA:35706 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,... |
OMIM:251880 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... |
ORPHA:79402 |
Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinemia |
OMIM:605899 |
Sea-Blue Histiocytosis |
|
Hyperpigmentation of the skin, Splenomegaly, Sea-blue histiocytosis, Hypopigmentation of the skin... |
ORPHA:158029 |
Sepsis In Premature Infants |
|
Fever, Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral inf... |
ORPHA:90051 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weight loss, Decrease... |
ORPHA:90362 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Anemia, Abnormal circulating creatine kinase co... |
OMIM:615838 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemia, Hyperalanin... |
OMIM:619386 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia |
ORPHA:90308 |
Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Isolated Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thrive... |
ORPHA:229717 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule |
ORPHA:69125 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating... |
ORPHA:2902 |
Preeclampsia |
|
Helicobacter pylori infection, Increased body mass index, Small for gestational age, Elevated cir... |
ORPHA:275555 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hyperglycinemia, Hypothermia, Hypertaurinemia |
OMIM:245400 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre... |
ORPHA:26793 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... |
ORPHA:77259 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Babesiosis |
|
Fever, Hemolytic anemia, Splenomegaly, Recurrent pharyngitis, Depression, Recurrent infections, L... |
ORPHA:108 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia, Recurrent fever |
OMIM:614979 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia |
OMIM:614654 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Igg4-Related Aortitis |
|
Fever, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, I... |
ORPHA:449400 |
Marburg Hemorrhagic Fever |
|
Fever, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamy... |
ORPHA:99826 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive... |
OMIM:242840 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Recurrent herpes, Recurrent bronchitis, Recurrent infections, Recurrent fever, Recu... |
OMIM:620331 |
Neonatal Alloimmune Neutropenia |
|
Fever, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Temperatur... |
ORPHA:464370 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Fever, Hyperammonemia, Recurrent infections, Iron deficiency anemia, Hypoalbuminemi... |
ORPHA:1667 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Impaired T cell function, Abnormal lymphocyte physi... |
ORPHA:1830 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly, Recurrent candida infections, Decreased serum zinc, Letha... |
OMIM:201100 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia |
OMIM:610006 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal... |
ORPHA:79230 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Focal Myositis |
|
Fever, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent bronchopulmonary infe... |
OMIM:617303 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Thrombocytopenia, Severe infection, Recurrent tonsillitis, ... |
ORPHA:2686 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... |
ORPHA:83471 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Systemic Lupus Erythematosus 17 |
|
Fever, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Lymphopenia, Recurrent fever |
OMIM:301080 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Thrombotic Thrombocytopenic Purpura |
|
Fever, Reticulocytosis, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thrombocyt... |
ORPHA:54057 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Granulocytic hyperplasia |
OMIM:162830 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Rhabdoid Tumor |
|
Fever, Hypercalcemia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:69077 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
Tularemia |
|
Fever, Brain abscess, Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Menin... |
ORPHA:3392 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Failure to thrive, Lethargy |
OMIM:613561 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... |
OMIM:301000 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe... |
OMIM:617052 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Lethargy |
ORPHA:71277 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Griscelli Syndrome |
|
Fever, Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia... |
ORPHA:381 |
Bangstad Syndrome |
|
Pancytopenia, Small for gestational age |
OMIM:210740 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Recurrent infections, Persistenc... |
OMIM:260400 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Recurrent infections, Neutropenia, Failure to thrive |
OMIM:616395 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach... |
ORPHA:37042 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Leukocytosi... |
ORPHA:94093 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent infections, In... |
OMIM:617591 |
Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... |
OMIM:616433 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Small for gestational age, Acute lymphoblastic le... |
OMIM:606593 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... |
OMIM:214500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulat... |
ORPHA:159 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Relapsing Fever |
|
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leu... |
ORPHA:91547 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Sple... |
OMIM:613385 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276556 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating uracil concentration, Lethargy, Elevated circulating thymine concentration, ... |
OMIM:222748 |
Hereditary Central Diabetes Insipidus |
|
Fever, Lethargy, Weight loss |
ORPHA:30925 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Pneumocystosis |
|
Fever, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Increased circul... |
ORPHA:723 |
Multicentric Reticulohistiocytosis |
|
Fever, Cachexia, Histiocytosis |
ORPHA:139436 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Drug-Induced Lupus Erythematosus |
|
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... |
ORPHA:231111 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:607426 |
Aicardi-Goutieres Syndrome 7 |
|
Fever, Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocytop... |
OMIM:615846 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Early Myoclonic Encephalopathy |
|
Lethargy, Recurrent respiratory infections |
ORPHA:1935 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276575 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... |
ORPHA:210136 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... |
OMIM:614520 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... |
OMIM:617099 |
Cryptogenic Organizing Pneumonia |
|
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ... |
ORPHA:1302 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Evans Syndrome |
|
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Depression, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis |
ORPHA:309288 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... |
OMIM:619151 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr... |
OMIM:606003 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... |
ORPHA:436159 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypothermia, Megaloblastic anemia, Hyperammonemia, Ele... |
ORPHA:79282 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:616553 |
Fetal Gaucher Disease |
|
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyperisoleucinemia,... |
ORPHA:2394 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy |
OMIM:312170 |
Aspergillosis |
|
Fever, Eosinophilia, Increased circulating IgE level, Unusual CNS infection, Invasive pulmonary a... |
ORPHA:1163 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy |
OMIM:246900 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased plasma to... |
ORPHA:42 |
Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent infections, Anemia, Leukope... |
OMIM:620184 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... |
ORPHA:90354 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Decreased c... |
ORPHA:100 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level, Hypothermia |
ORPHA:226316 |
Boutonneuse Fever |
|
Fever, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytop... |
ORPHA:83313 |
Lysinuric Protein Intolerance |
|
Bone marrow hypercellularity, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abno... |
ORPHA:470 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level |
ORPHA:276580 |
Timothy Syndrome |
|
Hypocalcemia, Hypothermia, Recurrent infections |
OMIM:601005 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Recurrent fever, Hyperphenylalaninemia |
OMIM:233910 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat... |
OMIM:610377 |
Dystonia 31 |
|
Abnormal posturing, Depression |
OMIM:619565 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fever, Splenomegaly, Weight loss, Abnormal bone marrow cell morphology |
ORPHA:86893 |
Beta-Thalassemia |
|
Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, ... |
ORPHA:848 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia, Depression, Hypercholesterolemia, Abnormal circulating thyroglobu... |
ORPHA:90674 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopulmonary infe... |
OMIM:604173 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Se... |
ORPHA:199299 |
Cog4-Cdg |
|
Neonatal sepsis, Failure to thrive in infancy, Recurrent upper respiratory tract infections, Hepa... |
ORPHA:263501 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Febrile Infection-Related Epilepsy Syndrome |
|
Fever, Lethargy |
ORPHA:163703 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy |
OMIM:618225 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... |
OMIM:227645 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize... |
ORPHA:158681 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive... |
OMIM:237300 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy, Failure to thrive, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212140 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:615952 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hyperammonemia, Neutropenia |
OMIM:618253 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Whim Syndrome |
|
Bone marrow hypercellularity, Myelokathexis, Recurrent upper respiratory tract infections, Recurr... |
ORPHA:51636 |
Prolidase Deficiency |
|
Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulating antibody l... |
OMIM:170100 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:90673 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Diffuse Alveolar Hemorrhage |
|
Fever, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thromboc... |
ORPHA:90060 |
Avian Influenza |
|
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... |
ORPHA:454836 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Leth... |
ORPHA:927 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:301074 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... |
ORPHA:101028 |
Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat... |
ORPHA:79329 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy... |
ORPHA:542643 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... |
ORPHA:77261 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small for gestational age, Recurrent upper respiratory tract infections, Recur... |
OMIM:607143 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Failure to... |
OMIM:612541 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Recurrent fever, Congenital thrombocy... |
OMIM:618886 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... |
OMIM:242700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fever, Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Bone marrow hypercellularity, Eos... |
ORPHA:98849 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:247525 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Megakaryocyte dysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulo... |
ORPHA:508542 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
Chronic Myeloid Leukemia |
|
Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ... |
ORPHA:521 |
Adult-Onset Still Disease |
|
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... |
ORPHA:829 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Zika Virus Disease |
|
Fever, Meningitis, Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia |
ORPHA:448237 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen |
ORPHA:230 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Acute Monoblastic/Monocytic Leukemia |
|
Fever, Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Weight loss, Abnorma... |
ORPHA:514 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypothermia |
OMIM:618329 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Lethargy, Failure to thrive, Hyperammonemia |
OMIM:238970 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen... |
ORPHA:699 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Vacuolated lymphocytes, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... |
ORPHA:809 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Inflammatory Pseudotumor Of The Liver |
|
Fever, Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concent... |
ORPHA:90003 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Recurrent fever |
OMIM:616744 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Generalized hypopigmentation, Irregular hyperpigmentation |
ORPHA:1816 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold |
OMIM:108145 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammo... |
OMIM:255120 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... |
OMIM:300972 |
Vexas Syndrome |
|
Macrocytic anemia, Megakaryocyte dysplasia, Elevated circulating C-reactive protein concentration... |
OMIM:301054 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age |
OMIM:610498 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Lethargy, Hyperammonemia |
OMIM:253270 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Fever, Leukocytosis, Depression, Thrombocytopenia |
ORPHA:83601 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive, Recur... |
ORPHA:427 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections, Recurrent feve... |
OMIM:612783 |
Huntington Disease-Like 2 |
|
Weight loss, Bradykinesia, Depression, Apathy, Inertia |
OMIM:606438 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Letterer-Siwe Disease |
|
Fever, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Recurrent infections, Leukopenia, Hypoalbuminemia,... |
ORPHA:64743 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Failure to thrive, Elevated circulating C-reactive protein conc... |
OMIM:615934 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neutropenia in presence of anti-neutro... |
ORPHA:228426 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Fever, Lethargy, Bradykinesia |
ORPHA:101150 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Ménétrier Disease |
|
Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop... |
ORPHA:2494 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thri... |
OMIM:302060 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Weig... |
ORPHA:465508 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti |
ORPHA:1573 |
Pfapa Syndrome |
|
Abnormality of temperature regulation, Splenomegaly, Recurrent pharyngitis, Weight loss, Infectio... |
ORPHA:42642 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Typhoid |
|
Fever, Splenomegaly, Infectious encephalitis, Lethargy |
ORPHA:99745 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Lig4 Syndrome |
|
Leukocytosis, Abnormal bone marrow cell morphology, Pancytopenia, Acute leukemia |
ORPHA:99812 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Sp... |
ORPHA:2930 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Lethargy, Failure to thrive |
OMIM:250620 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Pancytopenia, Recurrent fever |
OMIM:618321 |
Encephalitis Lethargica |
|
Fever, Lethargy, Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2251 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Lethargy, Sepsis, Depression |
ORPHA:79239 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Gaucher Disease |
|
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Spl... |
ORPHA:355 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... |
OMIM:227646 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp... |
ORPHA:67044 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Lethargy, Failure to thrive, Anemia |
ORPHA:97362 |
Gamma-Heavy Chain Disease |
|
Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia... |
ORPHA:100026 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Intermediate Osteopetrosis |
|
Chronic infection, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:210110 |
Diamond-Blackfan Anemia 11 |
|
Granulocytic hypoplasia, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
Bacterial Toxic-Shock Syndrome |
|
Fever, Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Ab... |
ORPHA:36234 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Fever, Lethargy |
OMIM:603896 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Follicular Lymphoma |
|
Fever, Splenomegaly, Meningitis, Weight loss |
ORPHA:545 |
Undifferentiated Pleomorphic Sarcoma |
|
Fever, Weight loss |
ORPHA:2023 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Fever, Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infect... |
ORPHA:169090 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... |
OMIM:608104 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Hyperammonemia, Recurrent infections, Neutropenia, Hyperalaninemia, Fa... |
OMIM:615471 |
Amoebiasis Due To Entamoeba Histolytica |
|
Fever, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thr... |
ORPHA:3240 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Immunodeficiency 31C |
|
Fever, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, R... |
OMIM:614162 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, Obesity |
OMIM:618493 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Abnormal optic disc morphology, Decreased corneal thickness, Congenital st... |
ORPHA:293967 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age |
ORPHA:226313 |
Sarcoidosis, Susceptibility To, 1 |
|
Fever, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Weight loss, Increased circu... |
OMIM:181000 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive |
OMIM:618226 |
Brucellosis |
|
Fever, Liver abscess, Lung abscess, Small for gestational age, Elevated circulating C-reactive pr... |
ORPHA:1304 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... |
ORPHA:71212 |
Classic Mycosis Fungoides |
|
Splenomegaly, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Hypopigmented skin pat... |
ORPHA:2584 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... |
OMIM:148820 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Anemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Severe infection, Leukopenia, Abnormal circul... |
ORPHA:206572 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Leukope... |
OMIM:617053 |
Cohen Syndrome |
|
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia |
OMIM:216550 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:261600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentra... |
OMIM:235400 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... |
OMIM:618213 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:201475 |
Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... |
ORPHA:218 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel... |
OMIM:617718 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Scrub Typhus |
|
Fever, Splenomegaly, Lethargy, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
Huntington Disease-Like 1 |
|
Bradykinesia, Abnormal posturing, Weight loss, Depression |
ORPHA:157941 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
Chronic Hiccup |
|
Weight loss, Depression |
ORPHA:396 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hyperpigmentation, Spotty hypopigmentation |
ORPHA:79133 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Low-grade ... |
ORPHA:50918 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Gra... |
ORPHA:1855 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Low-grade fever, Weight loss |
ORPHA:1164 |
Crimean-Congo Hemorrhagic Fever |
|
Fever, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomega... |
ORPHA:99827 |
3-Methylglutaconic Aciduria, Type Viib |
|
Bone marrow maturation arrest, Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia... |
OMIM:616271 |
Classic Hodgkin Lymphoma |
|
Fever, Splenomegaly, Bone marrow hypocellularity, Weight loss |
ORPHA:391 |
Cystic Echinococcosis |
|
Invasive parasitic infection, Abscess, Eosinophilia, Unusual infection, Weight loss, Increased ci... |
ORPHA:400 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Fever, Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangio... |
OMIM:274150 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:615085 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Decreased circulating total IgM, Na... |
OMIM:620040 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Hypoalbuminemia, Hyp... |
OMIM:613658 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Lethargy, Hyperammonemia |
ORPHA:254913 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss |
ORPHA:79238 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Acute Radiation Syndrome |
|
Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm... |
ORPHA:454831 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocy... |
ORPHA:1930 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
Macs Syndrome |
|
Prolonged bleeding time, Alopecia, Sparse eyebrow, Cryptorchidism, Sparse hair, Bruising suscepti... |
OMIM:613075 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Acute hyperammonemia, Failure to thrive |
OMIM:210200 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia |
ORPHA:85321 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Depression, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis,... |
OMIM:212750 |
Polyarteritis Nodosa |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion... |
ORPHA:66628 |
Beta-Ketothiolase Deficiency |
|
Fever, Leukocytosis, Hyperammonemia, Weight loss, Apathy, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Internal hemorrhage, Splenic rupture, Prolonged pro... |
ORPHA:335 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Temperature instability, Abnormal circulating ceruloplasmin concentration, Abnormal cir... |
OMIM:620306 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Elevated circulating 2-hydroxybutyric acid concentration, Lethargy, Failure to thrive, Hyperglyci... |
OMIM:605711 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Mccune-Albright Syndrome |
|
Pancytopenia, Bone marrow hypocellularity, Hypophosphatemia |
ORPHA:562 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Transient hyperlipidemia |
ORPHA:156 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Majeed Syndrome |
|
Fever, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcyti... |
ORPHA:77297 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Hyperpigmentation of the skin |
OMIM:617825 |
Microtriplication 11Q24.1 |
|
Keratoconus, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypercellularity, Increased circulating IgG level, Lymphocytosis, Increased B cell co... |
ORPHA:3261 |
Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion... |
ORPHA:179494 |
Psoriasis 14, Pustular |
|
Fever, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... |
ORPHA:79324 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Increased body weight, ... |
ORPHA:263455 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Fever, Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty ... |
OMIM:608836 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia |
OMIM:218700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Recurrent infections, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:617941 |
Dubowitz Syndrome |
|
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Hypocholesterolemia, Decreas... |
OMIM:223370 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Abnormality of skin pigmentation, Nail dystrophy, Anonychia,... |
ORPHA:79411 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc... |
ORPHA:171876 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased circulating IgA level, Abnormal circulating fatty-acid conc... |
ORPHA:2298 |
Wilson Disease |
|
Splenomegaly, Increased body weight, Depression, Anemia, Weight loss, Failure to thrive, Thromboc... |
ORPHA:905 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin |
ORPHA:261519 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow |
OMIM:225050 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Huntington Disease |
|
Depression, Bradykinesia, Weight loss, Abnormal circulating cholesterol concentration, Apathy, De... |
ORPHA:399 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Classic Phenylketonuria |
|
Tremor, Hypopigmentation of hair, Cataract, Hypopigmentation of the skin |
ORPHA:79254 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hyperglycinemia |
OMIM:614299 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Sparse hair |
OMIM:616353 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Anemia |
OMIM:613951 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Fever, Elevated circulating C-reactive protein concen... |
ORPHA:48435 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive... |
ORPHA:160 |
Maple Syrup Urine Disease |
|
Lethargy, Elevated circulating branched chain amino acid concentration, Elevated circulating L-al... |
OMIM:248600 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Thrombocytopenia |
OMIM:617397 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis |
ORPHA:205 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated... |
ORPHA:3243 |
Citrullinemia, Classic |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Let... |
OMIM:215700 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Unusual CNS infe... |
ORPHA:297 |
Rheumatoid Arthritis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Q Fever |
|
Fever, Unusual infection, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Weight loss, Granul... |
ORPHA:781 |
Tbck-Related Intellectual Disability Syndrome |
|
Bipolar affective disorder, Abnormal circulating lipid concentration, Hypothermia |
ORPHA:488632 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypopigmentation of the skin |
ORPHA:261304 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:79325 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia |
ORPHA:2909 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... |
OMIM:612562 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
Seckel Syndrome 1 |
|
Pancytopenia |
OMIM:210600 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... |
ORPHA:2330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy |
OMIM:604377 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin |
OMIM:601957 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Fragile nails |
OMIM:242150 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Hypothermia |
ORPHA:226307 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Cachexia, Anemia, Weight loss |
ORPHA:298 |
Fusariosis |
|
Fever, Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Unusual... |
ORPHA:228119 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Cirrhosis, Familial |
|
Fever, Increased level of propylene glycol in blood, Lethargy |
OMIM:215600 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Pyomyositis |
|
Fever, Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections, Weight ... |
ORPHA:764 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Lethargy, Failure to thrive |
OMIM:210210 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks |
ORPHA:254478 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularit... |
ORPHA:2968 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Purpura |
ORPHA:745 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Recurrent respiratory infections, Failure to thrive, Hypothermia |
ORPHA:17 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... |
OMIM:311250 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... |
OMIM:260920 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Hyperpigmentation of the ... |
OMIM:607398 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalized hypopigm... |
ORPHA:2720 |
Wolman Disease |
|
Fever, Cachexia, Bone-marrow foam cells, Splenomegaly, Anemia |
ORPHA:75233 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... |
ORPHA:505248 |
Rift Valley Fever |
|
Fever, Thrombocytopenia, Periodic fever, Severe viral infection, Increased circulating IgG level,... |
ORPHA:319251 |
Acute Generalized Exanthematous Pustulosis |
|
Fever, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Subcutaneous hemorrhage, Purpura |
ORPHA:743 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Low plasma citrulline, Hyperalaninemia, Failure to thrive |
ORPHA:255210 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Fever, Hypothermia, Hyperlipidemia, Recurrent upper respiratory tract infections, H... |
ORPHA:293987 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... |
OMIM:222700 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:301056 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Degcags Syndrome |
|
Fever, Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Congenital hy... |
OMIM:619488 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Leukocytosis, Recurrent otitis media, Lethargy, Recurrent lower respiratory tract infections, Fai... |
OMIM:620233 |
Alexander Disease |
|
Failure to thrive, Infectious encephalitis, Hypothermia, Depression |
ORPHA:58 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Kaposi Sarcoma |
|
Fever, Abnormality of the spleen, Recurrent herpes, Weight loss |
ORPHA:33276 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, Hyperph... |
ORPHA:466650 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Recurrent urinary tract infections, Depression, Hepatosplenomegaly, Recurrent infec... |
ORPHA:309282 |
Tufted Angioma |
|
Anemia, Megakaryocytopenia, Thrombocytopenia |
ORPHA:1063 |
Juvenile Huntington Disease |
|
Bradykinesia, Weight loss, Depression |
ORPHA:248111 |
Sarcoidosis |
|
Fever, Hemolytic anemia, Hypercalcemia, Hypothermia, Eosinophilia, Thrombocytopenia, Increased T ... |
ORPHA:797 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... |
OMIM:611584 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Leth... |
OMIM:615751 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... |
ORPHA:85443 |
Shigellosis |
|
Hyponatremia, Fever, Failure to thrive in infancy, Abscess, Leukocytosis, Abnormal blood ion conc... |
ORPHA:810 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum... |
ORPHA:420741 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Braddock-Carey Syndrome 2 |
|
Megakaryocytopenia, Thrombocytopenia |
OMIM:619981 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
Cholera |
|
Hyponatremia, Fever, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy |
ORPHA:173 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... |
ORPHA:391487 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, Small for gesta... |
ORPHA:99843 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Sepsis, Weight loss, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Recurrent bacterial infections, Hyperuricemia, Neutropenia |
OMIM:232220 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmentation of the ski... |
ORPHA:1493 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Takayasu Arteritis |
|
Fever, Anemia, Weight loss |
ORPHA:3287 |
Yellow Fever |
|
Fever, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating crea... |
ORPHA:99829 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:251270 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Head titubation, Temperature instability, Recurrent urinary tract infections, Hypothermia |
ORPHA:99027 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... |
OMIM:607944 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fever, Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epist... |
ORPHA:79430 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Cryptorchidism, Fair hair, Blue irides |
OMIM:614613 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Costello Syndrome |
|
Deep-set nails, Keratoconus, Generalized hyperpigmentation, Abnormal fingernail morphology, Conca... |
ORPHA:3071 |
Biotinidase Deficiency |
|
Splenomegaly, Lethargy, Hyperammonemia |
OMIM:253260 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur... |
ORPHA:33364 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... |
ORPHA:91139 |
Syndromic Diarrhea |
|
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... |
ORPHA:84064 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia, Recurrent infections |
OMIM:619463 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Fever, Lethargy, Truncal titubation |
OMIM:607483 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia |
OMIM:208085 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia, Hypothermia |
ORPHA:31826 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Retinal degeneration |
ORPHA:542306 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Localized Epidermolysis Bullosa Simplex |
|
Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk... |
ORPHA:69087 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentratio... |
ORPHA:370348 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Temperature instability, Intermittent hypothermia |
OMIM:608643 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ... |
OMIM:251260 |
Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level, Hypocalcemia, Neutropenia, Failure to thrive, Anemia |
ORPHA:175 |
Lujo Hemorrhagic Fever |
|
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe viral infectio... |
ORPHA:319213 |
Leigh Syndrome |
|
Severe viral infection, Neutropenia, Hyperalaninemia, Failure to thrive, Anemia |
ORPHA:506 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Tremor, Optic atrophy, Astigmatism, Fair hair, Hypopigmentation o... |
ORPHA:72 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Failure to thrive, Neutropenia |
OMIM:618005 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperaldosteronism, Impaired platelet aggregation |
OMIM:241200 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive, Hy... |
OMIM:207900 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia |
OMIM:617827 |
Alveolar Echinococcosis |
|
Fever, Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulatin... |
ORPHA:284 |
Whipple Disease |
|
Hyponatremia, Fever, Cachexia, Splenomegaly, Depression, Infectious encephalitis, Anemia |
ORPHA:3452 |
Biotinidase Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Hyperammonemia, Recurrent fungal infect... |
ORPHA:79241 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive |
ORPHA:395 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormality of the spleen, Abnormal platelet function, Cryptorchidism |
ORPHA:648 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia |
OMIM:610832 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
Perry Syndrome |
|
Weight loss, Apathy, Depression |
ORPHA:178509 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:305000 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:290 |
Caroli Disease |
|
Fever, Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abn... |
ORPHA:53035 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Recurrent urinary tract infections, Hepatosplenomegaly, Weight loss, Hypoalbumi... |
OMIM:619487 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Retinal arteriolar tortuosity, Sparse eyebrow, Optic atr... |
OMIM:230740 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... |
OMIM:256040 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Glucose-Galactose Malabsorption |
|
Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Bradykinesia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Idiopathic Bronchiectasis |
|
Fever, Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae i... |
ORPHA:60033 |
Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss |
ORPHA:2905 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Recurrent respiratory infections, Neutropenia |
OMIM:617050 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Fever, Intraalveolar phospholipid accumulation, Weigh... |
ORPHA:747 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Elevated circulating creatine kinase concentration, Depression, Brady... |
ORPHA:254892 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... |
OMIM:614866 |
Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Dowling-Degos Disease |
|
Inguinal freckling, Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation o... |
ORPHA:79145 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Trichinellosis |
|
Lethargy, Increased circulating IgE level, Apathy, Meningitis |
ORPHA:863 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia |
OMIM:231005 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic macule, Nail dystrophy, Freck... |
OMIM:618373 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Fever, Weight loss |
ORPHA:2126 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Titubation, Bradykinesia, Abnormal posturing, Recur... |
ORPHA:225147 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Elevated circulating calcitonin concentration, Ab... |
ORPHA:79443 |
Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Microcytic anemia, Hypertrichosis |
OMIM:612379 |
Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypopigmen... |
ORPHA:2067 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro... |
ORPHA:2072 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:457260 |
Primary Sclerosing Cholangitis |
|
Fever, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepa... |
ORPHA:171 |
Caroli Syndrome |
|
Fever, Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Sepsis, Leukope... |
ORPHA:480520 |
Martin-Probst Syndrome |
|
Pancytopenia |
OMIM:300519 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc... |
OMIM:612852 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Weight loss |
ORPHA:216866 |
Polymyositis |
|
Fever, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Spotty hypopigmentation, Decreased circulating total IgM, Cafe-au-lait s... |
OMIM:210900 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Nail... |
OMIM:308300 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
Thrombocytopenia 6 |
|
Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia |
OMIM:616937 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... |
ORPHA:95409 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Splenomegaly, Iris hypopigmentation |
ORPHA:834 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Depression |
OMIM:618093 |
Neuroblastoma, Susceptibility To, 1 |
|
Fever, Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Recurrent bacterial infections, Hyperu... |
ORPHA:79259 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Fever, Increased circulating interleukin 6 concentration, Hemolytic anemia, Brain a... |
ORPHA:544482 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Increased body weight, Abdominal obesity, Lethargy, Temperature... |
ORPHA:398069 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci... |
ORPHA:79277 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:1807 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Stevens-Johnson Syndrome |
|
Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Weight loss, Anemia,... |
ORPHA:36426 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin, Leukemia |
OMIM:276300 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Weight loss, Failure to thrive |
ORPHA:95427 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Fever, Disseminated nontuberculous mycobacterial infection, Mycobacterium abscessus abscessus inf... |
ORPHA:411703 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Abnormality of hair pigmentation |
OMIM:618156 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... |
OMIM:620005 |
Osteootohepatoenteric Syndrome |
|
Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure to thrive, Anemia |
OMIM:619377 |
Pediatric Systemic Lupus Erythematosus |
|
Fever, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Eosinophilia, Weight loss, Lymphocytosis, Infectious encephalitis |
ORPHA:139402 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of skin pigmentation, Splenomegaly |
ORPHA:1414 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Lethargy, Failure to thrive |
ORPHA:2609 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Obesity, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398079 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Neutropenia |
ORPHA:193 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Lethargy |
OMIM:229700 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Anemia, Weight loss |
ORPHA:83469 |
Intellectual Disability And Myopathy Syndrome |
|
Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Sandifer Syndrome |
|
Abnormal posturing, Anemia |
ORPHA:71272 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic... |
ORPHA:464343 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abnormal circulating citrulline c... |
ORPHA:415 |
Waardenburg Syndrome, Type 1 |
|
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... |
OMIM:193500 |
Porphyria Variegata |
|
Anemia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:79473 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Pediatric-Onset Graves Disease |
|
Splenomegaly, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Thrombocyt... |
ORPHA:525731 |
Nail-Patella Syndrome |
|
Ridged nail, Keratoconus, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia... |
OMIM:161200 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Depigmentation/hyperpigmentation of skin, Decreased circulating antibody level, Generalized retic... |
ORPHA:79396 |
Amoebiasis Due To Free-Living Amoebae |
|
Fever, Unusual skin infection, Granuloma, Lethargy, Infectious encephalitis, Increased red blood ... |
ORPHA:68 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin |
ORPHA:356961 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Giant platelets, Recurrent infections, Anemia, Thrombocytopenia |
OMIM:611209 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula... |
ORPHA:49041 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Abnormality of skin pigmenta... |
ORPHA:75496 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Sepsis, Weight loss |
ORPHA:388 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abscess, Hypothermia, Recurrent Staphylococcus aureus infections, Recurrent fever, Unexplained fe... |
ORPHA:642 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Hereditary Fructose Intolerance |
|
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Crouzon Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fever, Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased ... |
ORPHA:79078 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections |
ORPHA:704 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperuricemia |
OMIM:232240 |
Farber Disease |
|
Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent fev... |
ORPHA:333 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin |
OMIM:236200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypopigmented skin patches |
ORPHA:3143 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... |
ORPHA:125 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Failure to thrive, Thrombocytopenia |
OMIM:251290 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Athetosis, Choroideremia, I... |
ORPHA:2719 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Extramedullary hematopoiesis |
ORPHA:79303 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Splenomegaly, Hyperalaninemia, Failure to thrive, Lethargy |
OMIM:252010 |
Hemorrhagic Fever-Renal Syndrome |
|
Fever, Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, Severe ... |
ORPHA:340 |
Perry Syndrome |
|
Bradykinesia, Weight loss, Apathy, Depression |
OMIM:168605 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time, Curly hair |
OMIM:616559 |
Ogden Syndrome |
|
Lethargy |
ORPHA:276432 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea... |
OMIM:618175 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Porphyria Cutanea Tarda |
|
Abnormal erythrocyte enzyme level, Hypopigmentation of the skin, Hyperpigmentation of the skin, C... |
ORPHA:101330 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Apathy, Decreased body weight, Thrombocytopenia |
OMIM:608013 |
Malt Lymphoma |
|
Fever, Recurrent respiratory infections, Anemia, Weight loss |
ORPHA:52417 |
Aicardi-Goutieres Syndrome 1 |
|
Fever, Splenomegaly, Thrombocytopenia |
OMIM:225750 |
Menkes Disease |
|
Sepsis, Hypothermia |
ORPHA:565 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy |
OMIM:614922 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Decreased circulating antibody level, Depression, Leukopenia, Normochromic ane... |
ORPHA:289390 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Hypothermia, Decreased serum iron |
ORPHA:438213 |
Glycerol Kinase Deficiency |
|
Lethargy, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia |
OMIM:307030 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Adams-Oliver Syndrome |
|
Leukopenia, Failure to thrive, Thrombocytopenia |
ORPHA:974 |
Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
Osteosarcoma |
|
Fever, Weight loss |
ORPHA:668 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Mixed hypo- and hyperpigme... |
ORPHA:79456 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia, Recurrent infections |
OMIM:620370 |
Lichen Planopilaris |
|
Hypopigmented skin patches |
ORPHA:525 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Recurrent infections, Weight loss... |
ORPHA:361 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Depression |
OMIM:128100 |
Eisenmenger Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... |
ORPHA:97214 |
Hennekam-Beemer Syndrome |
|
Abnormality of skin pigmentation, Irregular hyperpigmentation, Generalized hyperpigmentation, Mas... |
ORPHA:2135 |
Nodular Non-Suppurative Panniculitis |
|
Fever, Splenomegaly, Weight loss |
ORPHA:33577 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Neutropenia |
OMIM:617799 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair |
ORPHA:1806 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... |
OMIM:277900 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bipolar affective disorder, Autoim... |
ORPHA:77293 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Iris transillumination defect |
OMIM:617306 |
Juvenile Dermatomyositis |
|
Calcinosis, Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-rea... |
ORPHA:93672 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cafe-au-lait spot, Hypopigmented skin patches, Decreased circulating IgA level |
ORPHA:457485 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Hartnup Disease |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2116 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypopigmentation of the skin |
OMIM:614969 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss |
ORPHA:188 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:261323 |
Noonan Syndrome 4 |
|
Thrombocytopenia, Large for gestational age |
OMIM:610733 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula... |
ORPHA:91500 |
Sialuria |
|
Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:3166 |
Giant Cell Arteritis |
|
Fever, Abnormality of thrombocytes, Recurrent pharyngitis, Depression, Weight loss, Meningitis |
ORPHA:397 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Hypothermia |
ORPHA:198 |
Bullous Pemphigoid |
|
Weight loss, Recurrent infections |
ORPHA:703 |
Idiopathic Hypereosinophilic Syndrome |
|
Fever, Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, H... |
ORPHA:3260 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy, Failure to thrive |
OMIM:229600 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Incontinentia Pigmenti |
|
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Eosinophilia, Supernumerary nip... |
ORPHA:464 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Weight loss, Recurrent infections |
ORPHA:99921 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Fever, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:464321 |
Japanese Encephalitis |
|
Hyponatremia, Fever, Neutrophilia, Increased circulating IgM level, Increased circulating antibod... |
ORPHA:79139 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin |
OMIM:163200 |
Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Abnormality of skin pigmentation, Sparse hair, Hypoplastic fingernail |
ORPHA:2457 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Prolonged prothrombin time |
OMIM:613812 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Zygomycosis |
|
Fever, Brain abscess, Unusual skin infection, Invasive fungal infection, Neutropenia, Splenic abs... |
ORPHA:73263 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Failure to thriv... |
ORPHA:354 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin |
OMIM:620237 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Hereditary Bullous Dystrophy, Macular Type |
|
Spotty hypopigmentation, Hyperpigmentation of the skin |
ORPHA:1867 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia |
OMIM:620072 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Hypopigmentation of the skin, Thro... |
OMIM:263700 |
Granulomatosis With Polyangiitis |
|
Fever, Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, W... |
ORPHA:900 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches |
ORPHA:96061 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Kaposiform Lymphangiomatosis |
|
Fever, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia |
ORPHA:464329 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We... |
ORPHA:100085 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive |
OMIM:201470 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... |
ORPHA:233 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... |
ORPHA:163746 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Recurrent pneumonia |
ORPHA:1329 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr... |
OMIM:619991 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Recurrent infections |
OMIM:616737 |
Prader-Willi Syndrome |
|
Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi... |
OMIM:176270 |
Digeorge Syndrome |
|
Bipolar affective disorder, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Obesity,... |
OMIM:188400 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Cryptorchidism |
OMIM:618280 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Weight loss |
ORPHA:79127 |
Medulloblastoma |
|
Lethargy, Abnormal bone marrow cell morphology |
ORPHA:616 |
Budd-Chiari Syndrome |
|
Fever, Splenomegaly, Weight loss |
ORPHA:131 |
Sponastrime Dysplasia |
|
Small for gestational age, Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:367 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:98754 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fever, Eosinophilia, Weight loss |
ORPHA:183 |
Nephroblastoma |
|
Fever, Weight loss |
ORPHA:654 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:97289 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Rat-Bite Fever |
|
Fever, Sepsis, Weight loss, Meningitis, Anemia |
ORPHA:31205 |
Microsporidiosis |
|
Fever, Brain abscess, Cachexia, Abnormality of the spleen, Sepsis, Bronchiolitis, Weight loss, Ab... |
ORPHA:2552 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Yao Syndrome |
|
Recurrent fever, Weight loss |
OMIM:617321 |
Lathosterolosis |
|
Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:98793 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... |
ORPHA:50814 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:177901 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches |
ORPHA:1784 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... |
ORPHA:2388 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Mildly elevated creatine kinase, Depression |
OMIM:607459 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Bon... |
ORPHA:1775 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level |
OMIM:613070 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Posterior Urethral Valve |
|
Lethargy, Recurrent urinary tract infections |
ORPHA:93110 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:612199 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Infantile Krabbe Disease |
|
Cachexia, Recurrent infections, Unexplained fevers, Temperature instability, Failure to thrive |
ORPHA:206436 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypopigmented skin patches |
ORPHA:1295 |
Histiocytoid Cardiomyopathy |
|
Fever, Lethargy, Failure to thrive |
ORPHA:137675 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... |
OMIM:212065 |
Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Weight loss, Depression |
ORPHA:440437 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Oromandibular Dystonia |
|
Weight loss, Depression |
ORPHA:93958 |
Glucagonoma |
|
Hypercalcemia, Acanthocytosis, Depression, Weight loss, Normochromic anemia |
ORPHA:97280 |
Tetragametic Chimerism |
|
Blood group antigen abnormality, Abnormal cellular immune system morphology, Hypopigmented skin p... |
ORPHA:199310 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia |
ORPHA:1133 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
Polycythemia Vera |
|
Myelofibrosis, Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
22Q11.2 Deletion Syndrome |
|
Bipolar affective disorder, Impaired T cell function, Abnormality of thrombocytes, Splenomegaly, ... |
ORPHA:567 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... |
OMIM:274000 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Fatal Familial Insomnia |
|
Fever, Weight loss |
OMIM:600072 |
Granulomatosis With Polyangiitis |
|
Fever, Granulomatosis, Weight loss |
OMIM:608710 |
Ruvalcaba Syndrome |
|
Hypopigmented skin patches |
ORPHA:3121 |
Lymphoid Interstitial Pneumonia |
|
Fever, Failure to thrive, Severe viral infection, Weight loss |
ORPHA:79128 |
Leptospirosis |
|
Fever, Hyperproteinemia, Meningitis, Thrombocytopenia |
ORPHA:509 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches |
ORPHA:3453 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Neutropenia |
OMIM:617248 |
Adrenocortical Carcinoma |
|
Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation |
OMIM:300860 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Splenomegaly, Erythroid hyperplasia, Hypopigmentation of the skin, Hyperpigment... |
ORPHA:95159 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
Curry-Jones Syndrome |
|
Hypopigmented skin patches |
ORPHA:1553 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmented skin patches |
ORPHA:2715 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Recurrent infections, Acute lymphoblastic leukemia, Anemia, Thrombocy... |
ORPHA:235 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight |
OMIM:619005 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
ORPHA:739 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Prolonged bleeding time, Bruising susceptibility |
ORPHA:287 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody leve... |
OMIM:222470 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Semilobar Holoprosencephaly |
|
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive |
ORPHA:93924 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Fever, Sepsis, Depression, Neutropenia, Anemia |
ORPHA:95455 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Short Stature With Microcephaly And Distinctive Facies |
|
Spotty hyperpigmentation, Anisopoikilocytosis, Spotty hypopigmentation, Anemia |
OMIM:615789 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin |
OMIM:251300 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Depression, Anemia, Hypokalemia, H... |
ORPHA:534 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Weight loss, Low-grade fever, Hepatosplenomegaly |
ORPHA:85408 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Abnormality of temperature regulation, Thrombocytopenia, Decr... |
OMIM:619004 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Large for gestational age |
ORPHA:500095 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Weight loss, Hypercalcemia, Depression |
ORPHA:652 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Large for gestational age |
OMIM:617107 |
Pulmonary Alveolar Microlithiasis |
|
Fever, Abnormal circulating calcium concentration, Weight loss, Increased circulating surfactant ... |
ORPHA:60025 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Weight loss, Depression |
OMIM:137440 |
Harrod Syndrome |
|
Hypopigmented skin patches |
ORPHA:2115 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
Kufor-Rakeb Syndrome |
|
Fever, Lethargy, Apathy, Bradykinesia |
ORPHA:306674 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Thrombocytopenia |
OMIM:147791 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Acute Liver Failure |
|
Fever, Thrombocytopenia, Hyperammonemia, Depression |
ORPHA:90062 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Erdheim-Chester Disease |
|
Fever, Anemia, Weight loss |
ORPHA:35687 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Bipolar affective disorder, Bone marrow hypocellularity, Thromb... |
ORPHA:2308 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia |
OMIM:276700 |
Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches |
ORPHA:1647 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypopigmentation of the skin, Hepatosplenomegaly |
OMIM:301066 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Hypopigmentation of the skin |
OMIM:252500 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cachexia |
ORPHA:217346 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Depression |
ORPHA:536 |
Hardikar Syndrome |
|
Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirub... |
OMIM:301068 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Anemia |
ORPHA:2637 |
Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Weight loss, Apathy, Depression |
ORPHA:411602 |
Localized Scleroderma |
|
Hypopigmented skin patches, Hyperpigmentation of the skin, Vitiligo |
ORPHA:90289 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Retinal detachment, Keratoconus |
OMIM:225400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Recurrent pneumoni... |
ORPHA:731 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Normochromic anemia, Weight loss |
ORPHA:97282 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Impaired T cell function, Recurrent infections |
OMIM:192430 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:97283 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod... |
ORPHA:247598 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair |
ORPHA:1974 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Prolonged prothrombin time, Polycythemia |
ORPHA:309854 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Truncal obesity, Thrombocytopenia |
OMIM:301072 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Fair hair, Cafe-au-lait spot, Hypopigmentation of the skin, Vitiligo |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Fair hair, Cafe-au-lait spot, Hypopigmentation of the skin, Vitiligo |
ORPHA:363958 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time, Abnormality of hair texture |
ORPHA:88618 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hypopigmented skin patches |
ORPHA:53715 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis |
ORPHA:96168 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:29072 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Hypopigmented skin patches |
ORPHA:678 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Glossopharyngeal Neuralgia |
|
Weight loss, Depression |
ORPHA:221098 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Head titubation, Cachexia |
ORPHA:300605 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,... |
ORPHA:84 |
Nocardiosis |
|
Fever, Brain abscess, Liver abscess, Severe infection, Unusual CNS infection, Sepsis, Weight loss... |
ORPHA:31204 |
Chromomycosis |
|
Hypopigmented skin patches |
ORPHA:182 |
Ogden Syndrome |
|
Recurrent infections, Iron deficiency anemia, Hyperbilirubinemia, Recurrent otitis media, Polycyt... |
OMIM:300855 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia |
ORPHA:14 |
Klatskin Tumor |
|
Fever, Weight loss |
ORPHA:99978 |
Hydranencephaly |
|
Lethargy, Meningitis |
ORPHA:2177 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Melanocytic nevus |
OMIM:619475 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss |
ORPHA:100075 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Recurrent infections |
ORPHA:487796 |
Goodpasture Syndrome |
|
Fever, Weight loss, Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrogen, Hypophosph... |
OMIM:219800 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Increased c... |
ORPHA:51 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Isolated Biliary Atresia |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... |
ORPHA:920 |
Schwartz-Jampel Syndrome |
|
Cachexia, Elevated circulating creatine kinase concentration, Malignant hyperthermia, Decreased b... |
ORPHA:800 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Recurrent otitis media, Failure to thrive, Thrombocytopenia |
OMIM:619525 |
Dermatomyositis |
|
Fever, Recurrent respiratory infections, Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Lynch Syndrome |
|
Weight loss, Depression |
ORPHA:144 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Hypopigmented skin patches, Hepatosplenomegaly, White forelock, H... |
OMIM:609136 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Prolonged prothrombin time |
OMIM:614921 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss |
ORPHA:309031 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
Mucolipidosis Type Ii |
|
Splenomegaly, Weight loss, Recurrent respiratory infections, Hepatosplenomegaly |
ORPHA:576 |
Tropical Endomyocardial Fibrosis |
|
Fever, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, H... |
ORPHA:75565 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Failure to thrive, Weight loss |
ORPHA:1018 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Familial Pancreatic Carcinoma |
|
Weight loss, Peritoneal abscess, Hepatosplenomegaly |
ORPHA:1333 |
Mosaic Trisomy 20 |
|
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin |
ORPHA:1724 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Reactive Arthritis |
|
Fever, Recurrent urinary tract infections, Weight loss |
ORPHA:29207 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Weight loss |
ORPHA:100078 |
Xeroderma Pigmentosum |
|
Freckling, Hypopigmented skin patches, Hypermelanotic macule, Melanocytic nevus |
ORPHA:910 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Behçet Disease |
|
Fever, Splenomegaly, Weight loss, Meningitis, Infectious encephalitis |
ORPHA:117 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Alkaptonuria |
|
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail |
ORPHA:56 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Eec Syndrome |
|
Generalized hypopigmentation, Hypoplasia of the thymus |
ORPHA:1896 |
Camurati-Engelmann Disease |
|
Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia |
ORPHA:1328 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Parathyroid Carcinoma |
|
Weight loss, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Ppoma |
|
Hypercalcemia, Weight loss |
ORPHA:97278 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Depression, Weight lo... |
ORPHA:99889 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Hypopigmentation of the skin, Reticular hyperpigmentation |
OMIM:305600 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2907 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Optic atrophy, Iri... |
ORPHA:818 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait spot |
OMIM:210720 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Generalized hypopigmentation, Leukocytosis |
OMIM:619321 |
Grfoma |
|
Hypercalcemia, Weight loss |
ORPHA:97261 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Weight loss |
ORPHA:913 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Weight loss |
ORPHA:91347 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Pitt-Hopkins Syndrome |
|
Hypopigmented skin patches |
ORPHA:2896 |
Osteogenesis Imperfecta |
|
Small for gestational age, Thrombocytopenia |
ORPHA:666 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:404454 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:604292 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Failure to thrive, Weight loss |
ORPHA:2020 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Systemic Sclerosis |
|
Irregular hyperpigmentation, Spotty hypopigmentation |
ORPHA:90291 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive |
ORPHA:90794 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:129900 |
Cowden Syndrome |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:201 |
Cockayne Syndrome |
|
Splenomegaly, Hyperuricemia, Cachexia |
ORPHA:191 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Hypopigmented skin patches... |
ORPHA:2556 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Kindler Syndrome |
|
Spotty hyperpigmentation, Spotty hypopigmentation |
OMIM:173650 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
African Trypanosomiasis |
|
Splenomegaly, Weight loss, Hepatosplenomegaly, Apathy, Periodic fever |
ORPHA:3385 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy |
OMIM:163950 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Sotos Syndrome |
|
Acute lymphoblastic leukemia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:821 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
X-Linked Intellectual Disability, Snyder Type |
|
Patchy hypo- and hyperpigmentation |
ORPHA:3063 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Alopecia of scalp |
OMIM:130050 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Mend Syndrome |
|
Spotty hypopigmentation |
ORPHA:401973 |
Mend Syndrome |
|
Spotty hypopigmentation |
OMIM:300960 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Pallister-Killian Syndrome |
|
Hypopigmented streaks, Hypopigmentation of the skin, Hyperpigmented streaks |
OMIM:601803 |
Proteus Syndrome |
|
Splenomegaly, Thymus hyperplasia, Cachexia, Recurrent infections |
ORPHA:744 |
Stickler Syndrome |
|
Recurrent respiratory infections, Slender build, Cachexia |
ORPHA:828 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Atypical Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentatio... |
ORPHA:79474 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |