| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... |
OMIM:619130 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding ... |
OMIM:209050 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:619271 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:173590 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... |
OMIM:619267 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Tented Eyebrows |
|
Abnormal hair morphology |
OMIM:611426 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... |
OMIM:187800 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal h... |
ORPHA:231393 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... |
OMIM:600208 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... |
OMIM:231200 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:173420 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis |
OMIM:615888 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| +173470 integrin, beta-3 |
|
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... |
OMIM:173470 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Glanzmann Thrombasthenia 1 |
|
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... |
OMIM:273800 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... |
OMIM:609821 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin, Anemia |
OMIM:617409 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Sebastian syndrome |
|
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... |
OMIM:605249 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... |
OMIM:277480 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... |
OMIM:155100 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Partial albinism, Red hair |
OMIM:203290 |
| Dyschromatosis Universalis Hereditaria |
|
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... |
ORPHA:241 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... |
OMIM:614009 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... |
OMIM:601399 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Failure to thrive,... |
OMIM:613501 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... |
OMIM:139090 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Thrombocytosis, BCGosis, Leukocytosis, Pancytopenia... |
OMIM:618963 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... |
OMIM:601709 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia |
OMIM:185050 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair |
ORPHA:1410 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:126070 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... |
OMIM:613101 |
| Von Willebrand Disease |
|
Abnormal thrombocyte morphology, Abnormal platelet function |
ORPHA:903 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... |
ORPHA:849 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:572 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased circulating antibody le... |
OMIM:300635 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia |
OMIM:615214 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Fever, Hepatosplenomegaly, Redu... |
OMIM:608898 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... |
OMIM:616050 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia |
OMIM:617443 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... |
OMIM:300988 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... |
OMIM:314050 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Thrombocytopenia, ... |
ORPHA:238459 |
| Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... |
OMIM:614470 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... |
OMIM:605735 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Gait disturbance, Abnormal macr... |
ORPHA:2585 |
| Transcobalamin Deficiency |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... |
ORPHA:859 |
| Fechtner syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... |
OMIM:153640 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... |
OMIM:308240 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Hypopigmentation of hair, Bruising susceptibility, Hypopigmentation of the ski... |
OMIM:614072 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia, Hypopigmentation of the skin |
OMIM:610798 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... |
OMIM:615897 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Persistent EBV viremia... |
OMIM:613011 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... |
OMIM:607624 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... |
OMIM:187900 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... |
OMIM:614075 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... |
OMIM:145250 |
| Leishmaniasis |
|
Increased circulating antibody level, Abnormal macrophage morphology, Weight loss, Pancytopenia, ... |
ORPHA:507 |
| Lymphoproliferative Syndrome 2 |
|
Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... |
OMIM:615122 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Abnormal bleeding |
OMIM:188030 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Increased megakaryocyte count, Abnormal megakaryocyte morphology, Neutropenia, Pancytopenia, Eryt... |
ORPHA:75564 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... |
OMIM:616740 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Bone ma... |
ORPHA:2688 |
| Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
| Von Willebrand Disease, Type 1 |
|
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... |
OMIM:193400 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... |
OMIM:615615 |
| Hypotrichosis 13 |
|
Woolly hair, Sparse and thin eyebrow, Sparse hair |
OMIM:615896 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, Recurrent respirato... |
OMIM:613502 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... |
ORPHA:182050 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Whim Syndrome 1 |
|
Myelokathexis, Bone marrow hypercellularity, Recurrent upper respiratory tract infections, Decrea... |
OMIM:193670 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis |
OMIM:614076 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... |
ORPHA:169154 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
OMIM:606952 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... |
OMIM:616873 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... |
OMIM:617780 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation |
OMIM:300700 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... |
OMIM:615559 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... |
OMIM:618986 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial infections, Recurrent... |
OMIM:616022 |
| Severe Combined Immunodeficiency, X-Linked |
|
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... |
OMIM:300400 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, ... |
OMIM:275350 |
| Hermansky-Pudlak Syndrome 5 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... |
OMIM:614074 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... |
OMIM:603552 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... |
OMIM:619374 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, Neutrophilia, B lymphocytopenia, ... |
OMIM:619281 |
| Essential Thrombocythemia |
|
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... |
ORPHA:3318 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... |
OMIM:210250 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... |
OMIM:617475 |
| Immunodeficiency 20 |
|
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zoster infec... |
OMIM:615707 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Malaria |
|
Hyperbilirubinemia, Reduced consciousness/confusion, Thrombocytopenia, Elevated circulating C-rea... |
ORPHA:673 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... |
ORPHA:998 |
| Ermine Phenotype |
|
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation |
OMIM:227010 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Coma, Increased total bilirubin, Pancytopenia, Hypo... |
OMIM:603553 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis |
OMIM:614201 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides |
OMIM:606574 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Bone marrow hypercellularity, Pancytopenia, Anemia, Leukopenia, Bone marrow... |
ORPHA:318 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... |
ORPHA:169079 |
| Cutaneous Mastocytoma |
|
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis |
ORPHA:79455 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Megakaryocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, A... |
OMIM:601495 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... |
OMIM:618394 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... |
ORPHA:274 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks, Eosinophilia |
OMIM:614323 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Unsteady gait... |
OMIM:159550 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility |
OMIM:614158 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Alopecia-Mental Retardation Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Woolly Hair |
|
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... |
ORPHA:170 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Ataxia, Pancytopenia, Recurrent infections, Failure to thrive |
ORPHA:251009 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... |
OMIM:619172 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... |
OMIM:614868 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... |
OMIM:137560 |
| Cyclic Neutropenia |
|
Fever, Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
| Isovaleric Acidemia |
|
Coma, Lethargy, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity |
OMIM:243500 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... |
OMIM:619220 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Anemia, Leukopenia... |
ORPHA:33355 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Thrombocytopenia, Recurrent infections, Failure to thrive, ... |
OMIM:618048 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... |
OMIM:604416 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... |
OMIM:209920 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... |
ORPHA:101096 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
| Hypotrichosis 8 |
|
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... |
OMIM:278150 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, P... |
ORPHA:90045 |
| Waardenburg Syndrome, Type 4B |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:613265 |
| Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... |
OMIM:227400 |
| White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Coma, Hemophagocytosis, Abnormality of multiple cel... |
ORPHA:540 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:617243 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eosinophilia, ... |
ORPHA:331206 |
| Congenital Enterovirus Infection |
|
Sepsis, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Meningitis, ... |
ORPHA:292 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Recu... |
ORPHA:79124 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Methylmalonic Aciduria, Cblb Type |
|
Coma, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acide... |
OMIM:251110 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Neutropenia, Recurrent staphylococcal infections, ... |
ORPHA:70592 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Coma, Dystonia, Lethargy, Sepsis, Neutropenia, Thrombocytopenia, Anemia, Hyperammonemia |
ORPHA:289916 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent bronchitis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibod... |
OMIM:300853 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia |
OMIM:616435 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... |
OMIM:614172 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... |
OMIM:618398 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides |
OMIM:103500 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss, Abnormal B cell count, Splenomegaly, Anemia, A... |
ORPHA:100024 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... |
OMIM:308230 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair |
OMIM:617252 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive,... |
ORPHA:79312 |
| Methylmalonic Aciduria, Cbla Type |
|
Coma, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acide... |
OMIM:251100 |
| Immunodeficiency 27A |
|
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Increa... |
OMIM:209950 |
| Primary Myelofibrosis |
|
Low-grade fever, Thrombocytosis, Bone marrow hypercellularity, Leukocytosis, Abnormal megakaryocy... |
ORPHA:824 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Autoimmune thrombocyt... |
OMIM:614700 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Pure red cell aplasia, Increased circulating guanosine concen... |
OMIM:613179 |
| Congenital Factor Ii Deficiency |
|
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... |
ORPHA:325 |
| Methylcobalamin Deficiency Type Cble |
|
Lethargy, Excessive daytime somnolence, Neutropenia, Pancytopenia, Drowsiness, Hypomethioninemia,... |
ORPHA:2169 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Coma, Lethargy, Failure to thrive, Anemia, Hyperammonemia |
ORPHA:28 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Neutropenia |
OMIM:600351 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Brui... |
ORPHA:3226 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Neutropenia, Weight loss, Thrombocytopenia, Meningitis, Agammaglobulinemia, Recurre... |
ORPHA:47 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin |
OMIM:614171 |
| Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... |
OMIM:613679 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
| Propionic Acidemia |
|
Coma, Dystonia, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, F... |
OMIM:606054 |
| Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Bone marrow hypocellularity, Aplastic anemia |
OMIM:614675 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin |
OMIM:619165 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... |
OMIM:618944 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... |
OMIM:614077 |
| Hermansky-Pudlak Syndrome 2 |
|
Albinism, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Ocular albinism, Ne... |
OMIM:608233 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidem... |
OMIM:277380 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... |
ORPHA:2643 |
| Primary Erythromelalgia |
|
Abnormal thrombocyte morphology, Leukemia, Hypothermia, Recurrent respiratory infections |
ORPHA:90026 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... |
OMIM:607594 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Thrombocytopenia, Impaired T cell function... |
OMIM:614576 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Neutropenia, Pancytopenia, Splenomegaly, Fever, Hyperlipidemia |
ORPHA:79477 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, Anemia, Bon... |
ORPHA:88 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... |
OMIM:618116 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... |
ORPHA:79397 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Recurrent infectio... |
OMIM:229050 |
| Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, White forelock |
OMIM:172850 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Megaloblastic anemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Hyperhomo... |
OMIM:236270 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Dysplastic granulopoesis, Leukocytosis, Chronic infec... |
ORPHA:86839 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... |
ORPHA:2442 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes |
OMIM:616760 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Fever, Weight loss, Abnormality of bone marrow cell morphology |
ORPHA:52416 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Vacuolated lymphocytes, Recurrent bacterial skin in... |
ORPHA:167 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Lethargy, Megaloblastic bone marrow, Failure to thrive |
ORPHA:79283 |
| Waardenburg Syndrome, Type 2A |
|
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... |
OMIM:193510 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... |
OMIM:251190 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... |
OMIM:267500 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... |
ORPHA:79399 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... |
ORPHA:277 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal ce... |
ORPHA:86843 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron |
OMIM:604250 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Lethargy, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia |
ORPHA:27 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... |
OMIM:608203 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Chronic oral candidia... |
OMIM:150550 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Splenomegaly, Recurrent pneumonia, Elev... |
OMIM:604173 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Failure to thrive, Unexplai... |
OMIM:614727 |
| Hemophilia B |
|
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... |
ORPHA:98879 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Trimethylaminuria |
|
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Abnormal posturing, Neutropenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hype... |
OMIM:614857 |
| Hermansky-Pudlak Syndrome 1 |
|
Freckles in sun-exposed areas, Albinism, Freckling, Prolonged bleeding time, Abnormal hair morpho... |
OMIM:203300 |
| Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss |
|
Hypopigmentation of the skin |
OMIM:617294 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Splenomegaly |
OMIM:618541 |
| Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Leukocytosis, Chronic infection, Neutropenia, Weight loss, Pancytop... |
ORPHA:520 |
| Mastocytosis, Cutaneous |
|
Hypermelanotic macule, Cutaneous mastocytosis |
OMIM:154800 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
OMIM:610333 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:613987 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... |
OMIM:617514 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Myeloid leukemia, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow hypocellularity |
OMIM:614743 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... |
OMIM:616576 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Lethargy, Megaloblastic bone marrow, Ataxia |
ORPHA:622 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Recurrent ear infections, Lymphopenia, Leukemia, Neutropenia, Recurrent viral infect... |
ORPHA:486 |
| Autosomal Agammaglobulinemia |
|
Neutropenia, Meningitis, Agammaglobulinemia, Recurrent infections, Failure to thrive, Sepsis, Fev... |
ORPHA:33110 |
| Meningococcal Meningitis |
|
Lethargy, Reduced consciousness/confusion, Drowsiness, Elevated circulating C-reactive protein co... |
ORPHA:33475 |
| Piebald Trait |
|
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... |
OMIM:172800 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Shwachman-Diamond Syndrome |
|
Neutropenia, Pancytopenia, Leukopenia, Anemia, Thrombocytopenia, Chronic neutropenia, Impaired ne... |
ORPHA:811 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... |
ORPHA:895 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Pgm3-Cdg |
|
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... |
ORPHA:443811 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Small for gestational age, Elevated circulating creatine k... |
OMIM:618775 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Difficulty walking, Elevated circulating creatine kinase concentration, Neutropenia, Microcytic a... |
OMIM:251900 |
| Caspase 8 Deficiency |
|
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:607271 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... |
OMIM:308220 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Hypothermia, Lethargy |
ORPHA:95717 |
| Lichtenstein Syndrome |
|
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
ORPHA:2786 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... |
ORPHA:98850 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Coma, Lethargy, Hyperglycinemia, Thrombocytopenia, Methylmalonic acidemia, Leukopenia, Failure to... |
OMIM:251000 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia |
OMIM:194350 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia, Ataxia |
OMIM:613839 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Recurrent infections, Neutropenia |
OMIM:616271 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... |
OMIM:203200 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recurrent otitis... |
OMIM:615688 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... |
OMIM:603585 |
| N-Acetylglutamate Synthase Deficiency |
|
Coma, Lethargy, Increased level of L-glutamic acid in blood, Confusion, Failure to thrive, Hypera... |
OMIM:237310 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Ataxia |
OMIM:616949 |
| Holocarboxylase Synthetase Deficiency |
|
Coma, Lethargy, Ataxia, Weight loss, Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Pulmonary Blastoma |
|
Fever, Weight loss, Recurrent pneumonia |
ORPHA:64741 |
| Thrombotic Thrombocytopenic Purpura |
|
Coma, Microangiopathic hemolytic anemia, Reticulocytosis, Confusion, Thrombocytopenia, Decreased ... |
ORPHA:54057 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Recurrent viral infection... |
OMIM:603554 |
| Dengue Fever |
|
Hypoproteinemia, Lethargy, Thrombocytopenia, Leukopenia, Fever |
ORPHA:99828 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Marburg Hemorrhagic Fever |
|
Lethargy, Weight loss, Thrombocytopenia, Leukopenia, Recurrent pharyngitis, Fever |
ORPHA:99826 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis |
OMIM:613554 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Lethargy, Megaloblastic bone marrow, Failure to thrive |
ORPHA:26 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Meningitis, Lethargy, Herpes simplex encephalitis |
OMIM:617900 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
| Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Prolonge... |
OMIM:600903 |
| Central Diabetes Insipidus |
|
Lethargy, Excessive daytime somnolence, Hyponatremia, Weight loss, Failure to thrive, Fever |
ORPHA:178029 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Prolonged bleeding time, Multiple cafe-au-lait spots |
ORPHA:638 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Elevated circulating creatine kinase concentration, Anemia, Pancytopenia, Ataxia |
OMIM:607426 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Failure to thrive, Bone marrow hypoc... |
OMIM:613989 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... |
ORPHA:2885 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... |
OMIM:304790 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock |
OMIM:601706 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Failure to thrive |
OMIM:617872 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Ataxia, Impaired T cell function, Failure to thrive, Splenomegaly, Recurrent candida in... |
OMIM:201100 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Elejalde Disease |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Splenomegaly, Hypothermia |
OMIM:251880 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Recurrent sta... |
OMIM:615816 |
| Uncombable Hair Syndrome 1 |
|
Pili canaliculi, Uncombable hair, Dry hair |
OMIM:191480 |
| Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... |
OMIM:607676 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Coma, Lethargy, Thrombocytosis, Leukocytosis, Hypoglycemic coma, Hyperuricemia, Ataxia, Weight lo... |
ORPHA:20 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair |
OMIM:194300 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Ataxia |
OMIM:266130 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dystonia, Lethargy, Failure to thrive |
ORPHA:26792 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia |
ORPHA:517 |
| Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level |
ORPHA:930 |
| Necrotizing Enterocolitis |
|
Temperature instability, Lethargy, Leukocytosis, Neonatal sepsis, Hyponatremia, Neutropenia, Thro... |
ORPHA:391673 |
| Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia, Hyperactivity |
OMIM:605899 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Failure to thrive, Decreased mean corpu... |
OMIM:611590 |
| Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Leukocytosis, Confusion, Severe infection, Elevated circulating C-reactive protein conc... |
ORPHA:36238 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Small for gestational age, La... |
ORPHA:324575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Large for gestational age, De... |
ORPHA:276556 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Dystonia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Felty Syndrome |
|
Recurrent pneumonia, Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutrope... |
ORPHA:47612 |
| Fanconi-Like Syndrome |
|
Pancytopenia, Recurrent lower respiratory tract infections |
OMIM:227850 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia |
OMIM:131400 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Meningitis, Lethargy, Herpes simplex encephalitis |
OMIM:613002 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Brain abscess, Elevated circulating C-reactive protein concentration, Anemia, Neutro... |
ORPHA:54251 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Recurrent infections, Hyperuricemia, Neutropenia |
OMIM:617056 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Thrombocytosis, Bone marrow hypercellularity, Abnormality of bone marrow st... |
ORPHA:86841 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:89838 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... |
ORPHA:33445 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Dystonia, Chronic neutropenia |
OMIM:619301 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... |
OMIM:618534 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Myeloid leukemia, Pancytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity |
OMIM:614742 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Lethargy, Episodic ataxia, Hyperalaninemia, Small for gestational age |
OMIM:312170 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Lethargy |
ORPHA:95716 |
| Neuroleptic Malignant Syndrome |
|
Coma, Hypocalcemia, Delirium, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Reduced ... |
ORPHA:94093 |
| Babesiosis |
|
Coma, Hemolytic anemia, Confusion, Thrombocytopenia, Recurrent infections, Leukopenia, Splenomega... |
ORPHA:108 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron, Lethargy, Splenomegaly |
OMIM:602390 |
| Bangstad Syndrome |
|
Pancytopenia, Progressive cerebellar ataxia, Small for gestational age |
OMIM:210740 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Lethargy, Abnormal erythrocyte morphology, Ataxia, Confusion |
ORPHA:71277 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation |
OMIM:113750 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Large for gestational age, De... |
ORPHA:276575 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... |
OMIM:153670 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
| Cirrhosis, Familial |
|
Fever, Lethargy, Increased level of propylene glycol in blood |
OMIM:215600 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Barth Syndrome |
|
Recurrent infections in infancy and early childhood, Gait disturbance, Neutropenia, Granulocytope... |
OMIM:302060 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions, Cutaneous mastocytosis |
ORPHA:280785 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Increased circulating IgM level, Sparse hair, Aplasia of the eccr... |
OMIM:300291 |
| Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Ocular albinism, Hypopigmentation of the skin |
OMIM:601220 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... |
OMIM:259720 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... |
ORPHA:158681 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Failure to thrive, Hyperalaninemia |
OMIM:618329 |
| Klippel-Trénaunay Syndrome |
|
Internal hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia |
ORPHA:90308 |
| Tularemia |
|
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Confusion, Thrombocytopeni... |
ORPHA:3392 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Recurrent pneumonia, Increased circulating IgM level, Neutropenia, Recurrent b... |
OMIM:617303 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gait, Recurrent ... |
OMIM:242900 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Dystonia, Splenomegaly |
OMIM:615846 |
| Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal circulating lipid conc... |
ORPHA:381 |
| Galactosemia |
|
Dystonia, Lethargy, Gait disturbance, Increased level of galactitol in plasma, Hypergalactosemia,... |
ORPHA:352 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Recurrent infections, Neutropenia, Failure to thrive |
OMIM:608809 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Coma, Delirium, Lethargy, Hyperglutaminemia, Ataxia, Confusion, Drowsiness, Acute hyperammonemia,... |
ORPHA:927 |
| Hyperlysinuria With Hyperammonemia |
|
Coma, Hyperammonemia, Lethargy, Hyperlysinemia |
OMIM:238750 |
| Ebola Hemorrhagic Fever |
|
Coma, Lethargy, Thrombocytopenia, Leukopenia, Recurrent pharyngitis |
ORPHA:319218 |
| Preeclampsia |
|
Helicobacter pylori infection, Elevated circulating creatinine concentration, Thrombocytopenia, S... |
ORPHA:275555 |
| Sepsis In Premature Infants |
|
Temperature instability, Disseminated viral infection, Leukocytosis, Neonatal sepsis, Neutropenia... |
ORPHA:90051 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Large for gestational age, Lo... |
ORPHA:276580 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomegaly, Hypopigmen... |
ORPHA:158029 |
| Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90342 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Coma, Increased total bilirubin, Hypoproteinemia, H... |
OMIM:267700 |
| Immunodeficiency 55 |
|
Recurrent infections, Neutropenia |
OMIM:617827 |
| Lymphedema, Primary, With Myelodysplasia |
|
Pancytopenia, Leukemia |
OMIM:614038 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule |
ORPHA:69125 |
| Amed Syndrome, Digenic |
|
Thrombocytopenia, Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Bone marrow hypo... |
OMIM:619151 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
OMIM:301000 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive |
OMIM:259700 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hyperglycinemia, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase... |
OMIM:619386 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Neut... |
ORPHA:1667 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia |
OMIM:617829 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Anonychia, Scarring alopecia of scalp, Anemia, Sparse body hair... |
ORPHA:79402 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... |
ORPHA:169160 |
| Citrullinemia Type I |
|
Coma, Lethargy, Ataxia, Torticollis, Failure to thrive, Hyperammonemia, Elevated plasma citrullin... |
ORPHA:247525 |
| Lujo Hemorrhagic Fever |
|
Recurrent pharyngitis, Coma, Fever, Lethargy |
ORPHA:319213 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Meningitis, Recurre... |
ORPHA:229717 |
| Rhabdoid Tumor |
|
Weight loss, Thrombocytopenia, Hypercalcemia, Anemia, Fever |
ORPHA:69077 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Hypothermia, Reduced consciousness/confusion, Ataxia |
ORPHA:29822 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypertaurinemia, Failure to thrive, Hypothermia, Hyperglycinemia |
OMIM:245400 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Gastro... |
ORPHA:324636 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Thick eyebrow, Generalized hirsutism |
ORPHA:2222 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy |
OMIM:606777 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections |
OMIM:610738 |
| Waardenburg Syndrome, Type 4A |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:277580 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Lethargy, Gait imbalance |
OMIM:618120 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly |
ORPHA:398124 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis |
OMIM:273900 |
| Gaucher Disease Type 1 |
|
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hyper... |
ORPHA:77259 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... |
ORPHA:449400 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... |
OMIM:617241 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Tooth abscess, Cyclic neutropenia... |
ORPHA:2686 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... |
OMIM:260400 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... |
ORPHA:79230 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Glycerol Kinase Deficiency |
|
Coma, Lethargy, Hypertriglyceridemia, Small for gestational age, Loss of consciousness |
OMIM:307030 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Fever, Weight loss |
ORPHA:48918 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutro... |
OMIM:169400 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Decreased plasma carnitine, Coma, Lethargy, Elevated creatine kinase after exercise, Elevated cir... |
ORPHA:159 |
| Selective Igm Deficiency |
|
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... |
ORPHA:331235 |
| Lig4 Syndrome |
|
Thrombocytopenia, Pancytopenia, Failure to thrive |
OMIM:606593 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Spleno... |
OMIM:617591 |
| Alpha-Mannosidosis, Adult Form |
|
Recurrent gastroenteritis, Ataxia, Confusion, Drowsiness, Pancytopenia, Recurrent infections, Hep... |
ORPHA:309288 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Lethargy, Overweight, Small for gestational age, Increased circula... |
ORPHA:26793 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... |
OMIM:600802 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia, Generalized hypopigmentation |
OMIM:257790 |
| Urocanase Deficiency |
|
Blue irides, Fair hair |
OMIM:276880 |
| Thymoma |
|
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... |
ORPHA:99867 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Giant... |
OMIM:214500 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Hyperactivity |
OMIM:274270 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... |
OMIM:618849 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... |
ORPHA:35078 |
| Herpes Simplex Virus Encephalitis |
|
Coma, Leukocytosis, Excessive daytime somnolence, Hyponatremia, Reduced consciousness/confusion, ... |
ORPHA:1930 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Coma, Lethargy, Decreased plasma total carnitine, Ataxia, Cachexia, Elevated circulating creatine... |
ORPHA:42 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Coma, Episodic ataxia, Lethargy, Hyperglutaminemia, Ataxia, Failure to thr... |
OMIM:311250 |
| Mevalonic Aciduria |
|
Leukocytosis, Fluctuating splenomegaly, Ataxia, Failure to thrive in infancy, Thrombocytopenia, P... |
OMIM:610377 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Hypocalcemia, Reduced proportion of CD4-negative, CD8-negative, alpha-bet... |
ORPHA:37042 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Lethargy |
OMIM:610006 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy, Megaloblastic anemia, Neutropenia, Recurrent infections, Failure to thrive, Elevated ci... |
ORPHA:79284 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... |
ORPHA:101150 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity |
OMIM:613990 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... |
OMIM:240500 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased plasma carnitine, Coma, Lethargy, Excessive daytime somnolence, Confusion, Failure to t... |
OMIM:212140 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Delirium, Lethargy, Megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Hypomethioninemi... |
ORPHA:79282 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia, Abnormal platelet granules |
OMIM:614073 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Dystonia, Hepatosplenomegaly |
OMIM:610329 |
| Vici Syndrome |
|
Cutaneous anergy, Recurrent fungal infections, Abnormal posturing, Decreased proportion of CD4-po... |
OMIM:242840 |
| Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
| Wiskott-Aldrich Syndrome |
|
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... |
ORPHA:906 |
| Transaldolase Deficiency |
|
Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia, Splenomegaly, Failure to thriv... |
OMIM:606003 |
| Gaucher Disease Type 3 |
|
Increased circulating antibody level, Gait disturbance, Ataxia, Pancytopenia, Thrombocytopenia, A... |
ORPHA:77261 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Coma, Hypoargininemia, Lethargy, Ataxia, Failure to thrive, Hyperammonemia... |
OMIM:237300 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia |
OMIM:616353 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Fever, Cachexia |
ORPHA:139436 |
| Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... |
ORPHA:231111 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Dystonia, Ataxia |
OMIM:617341 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Hereditary Central Diabetes Insipidus |
|
Fever, Lethargy, Weight loss |
ORPHA:30925 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Lethargy, Ataxia |
OMIM:618224 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splen... |
OMIM:613385 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Leukocytosis, Increased circulating IgA level, Failure to thrive... |
OMIM:617099 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Citrullinemia Type Ii |
|
