Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Presenile Dementia, Kraepelin Type |
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Dementia |
OMIM:176600 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
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Dementia, Cognitive impairment |
OMIM:618564 |
Alzheimer Disease 10 |
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Dementia, Memory impairment |
OMIM:609636 |
Schizophrenia |
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Social and occupational deterioration |
OMIM:181500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... |
ORPHA:86841 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Asplenia, Isolated Congenital |
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Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Acquired Idiopathic Sideroblastic Anemia |
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Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Immunodeficiency 69 |
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Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Neutrophilia, Hereditary |
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Neutrophilia, Hepatosplenomegaly, Elevated leukocyte alkaline phosphatase, Myelodysplasia |
OMIM:162830 |
Polycythemia Vera |
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Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Epilepsy, Progressive Myoclonic, 8 |
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Dementia, Cognitive impairment |
OMIM:616230 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Thrombocytopenia, Cyclic |
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Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Primary Myelofibrosis |
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Leukocytosis, Thrombocytosis, Hemangioma, Anemia, Splenomegaly, Increased circulating lactate deh... |
ORPHA:824 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced glutathione synthetase level, Glyoxalase deficiency |
OMIM:231900 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Heme Oxygenase 1 Deficiency |
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Thrombocytosis, Asplenia, Coombs-positive hemolytic anemia, Elevated circulating aspartate aminot... |
OMIM:614034 |
Immunodeficiency 27A |
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Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Histiocytosis |
OMIM:209950 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin |
OMIM:618309 |
Immunodeficiency 92 |
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Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Refract... |
OMIM:619523 |
Erythroleukemia, Familial, Susceptibility To |
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Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... |
OMIM:619041 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reticulocytosis, Ane... |
OMIM:224100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Frontotemporal dementia, Dementia, Memory impairment |
OMIM:619132 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Bleeding Disorder, Platelet-Type, 16 |
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Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia, Elevated gamma-glutamyltransferase level, Elevated circulating aspartate ... |
OMIM:615486 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
Familial Multinodular Goiter |
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Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... |
ORPHA:276399 |
Familial Thrombocytosis |
|
Thrombocytosis, Myelodysplasia, Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia |
ORPHA:71493 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Increased circulating lactate deh... |
ORPHA:3203 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Pancytopenia, Leukopenia, Lymphoproliferative disorder, Anemia, Bon... |
OMIM:615688 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Lymphoma, Elevated hepatic transaminase |
OMIM:212750 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Elevated hepatic transaminase, Jaundice |
ORPHA:20 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet a... |
ORPHA:324636 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Hemangioma, Lymphoproliferative disorder |
ORPHA:2905 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Myelodysplasia, Thrombocytopenia, Anemia, Splenomegaly, Myeloprolif... |
ORPHA:3260 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Myelodysplasia, Congeni... |
OMIM:105650 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytosis, Increased circulating lactate dehydrogenase concentration, Elevated... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Thrombocytosis |
OMIM:212065 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Polycythemia, Anemia, Neoplasm, Liver abscess, Elevated hepatic transaminase, Thr... |
ORPHA:88673 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis |
ORPHA:134 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Epidermodysplasia Verruciformis, X-Linked |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:305350 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Hepatoblastoma, Splenom... |
ORPHA:84064 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume, Hepatic failure, Jaundice |
OMIM:222470 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Gran... |
ORPHA:1304 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Perianal abscess, Hypochromic anemia |
OMIM:618213 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Anemia, Bone marrow hypocellularity, Squamous cell carcinoma of the skin, Lymphop... |
OMIM:127550 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Polycythemia, Bone marrow hypocellularity, Acute myeloid leukemia, ... |
ORPHA:2968 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Porokeratosis |
|
Squamous cell carcinoma of the skin |
ORPHA:79358 |
Doors Syndrome |
|
Thrombocytosis, Capillary hemangioma |
ORPHA:79500 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Xeroderma Pigmentosum, Complementation Group E |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
OMIM:278740 |
Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278720 |
Oculocutaneous Albinism Type 1B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:79434 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm |
OMIM:610651 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Abnormality of thrombocytes, Neutropenia, Squamous cell carcinoma of the skin |
ORPHA:79430 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:220295 |
Oculocutaneous Albinism |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:55 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Squamous cell carcinoma of the skin |
ORPHA:79396 |
Oculocutaneous Albinism Type 2 |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79432 |
Breast Cancer |
|
Breast carcinoma |
OMIM:114480 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Spinal cord tumor, Pilomatrixoma, Meningioma, Neoplasm |
ORPHA:353281 |
Tetrasomy 9P |
|
Pilomatrixoma, Jaundice |
ORPHA:3310 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Basal cell carcinoma, Pulmonary carcinoid tumor, Squamous cell ca... |
ORPHA:363618 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pilomatrixoma, Meningioma |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pilomatrixoma, Meningioma |
ORPHA:353277 |