Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Specific Granule Deficiency 1 |
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Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency 108 With Autoinflammation |
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Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive |
OMIM:617585 |
Immunodeficiency 32B |
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Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Mast Cell Sarcoma |
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Splenomegaly, Hepatomegaly, Mastocytosis, Weight loss |
ORPHA:66661 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
Necrobiosis Lipoidica |
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Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Indolent Systemic Mastocytosis |
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Hepatomegaly, Splenomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Abnormal social behavior |
ORPHA:436151 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Short attention span, Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... |
ORPHA:168782 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, He... |
ORPHA:98850 |
Chédiak-Higashi Syndrome |
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Elevated hepatic transaminase, Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Jaundic... |
ORPHA:167 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J... |
OMIM:214500 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly... |
OMIM:618935 |
Hsd10 Disease |
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Short attention span, Abnormal social behavior |
ORPHA:391417 |
Deafness-Lymphedema-Leukemia Syndrome |
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Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,... |
ORPHA:3226 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Aregenerative Anemia |
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Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De... |
ORPHA:101096 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Bone marrow hypocellularity,... |
ORPHA:2968 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... |
ORPHA:54251 |
Immunodeficiency 91 And Hyperinflammation |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... |
OMIM:619644 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... |
OMIM:306400 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis,... |
ORPHA:829 |
Staphylococcal Necrotizing Pneumonia |
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Leukopenia, Leukocytosis, Neutrophilia, Confusion |
ORPHA:36238 |
Relapsing Fever |
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Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Leukopenia... |
ORPHA:91547 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Increa... |
OMIM:617099 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Progressive psychomotor deterioration, Dementia, Cholecystitis, Neoplasm of... |
ORPHA:309271 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Metachromatic Leukodystrophy, Juvenile Form |
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Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Cholecystitis |
ORPHA:309263 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly |
OMIM:612852 |
Pneumocystosis |
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Abnormal neutrophil count, Increased circulating antibody level, Weight loss |
ORPHA:723 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Neutrophilia, Thrombocytosis, Cholangitis, Confusion, Eosinophilia... |
ORPHA:3260 |
Acute Generalized Exanthematous Pustulosis |
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Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia |
ORPHA:293173 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Abnormal liver parenchyma morphology, Hepatic fibrosis, Impaired n... |
ORPHA:79318 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:64280 |
48,Xxxy Syndrome |
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Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder |
ORPHA:96263 |
Choreoacanthocytosis |
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Bradyphrenia, Hepatomegaly, Short attention span, Elevated circulating aspartate aminotransferase... |
ORPHA:2388 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Progressive neurologic deterioration, Bone-marrow foam cells, Splenomegaly, Jaundic... |
ORPHA:646 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Failure to thrive |
ORPHA:2135 |
Fg Syndrome Type 1 |
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Abnormal social behavior, Slender build, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior |
ORPHA:530983 |
Leukocyte Adhesion Deficiency Type Ii |
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Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Leukocytosis, Anemia, F... |
ORPHA:99843 |
Hyper-Igd Syndrome |
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Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Impaired social interactions, Attention deficit hyperactivity disorder,... |
ORPHA:177907 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Confusion, Splenomegaly, Jaundice, ... |
ORPHA:99827 |
Familial Mediterranean Fever |
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Hepatomegaly, Neutrophilia, Splenomegaly, Peritonitis, Leukocytosis |
OMIM:249100 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior, Cholecystitis |
ORPHA:309256 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Memory impairment, Abnormal social behavior, Abnormal cortical gyration |
ORPHA:314647 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363958 |
Yellow Fever |
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Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... |
ORPHA:99829 |
Tuberous Sclerosis Complex |
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Attention deficit hyperactivity disorder, Abnormal social behavior, Hepatic cysts |
ORPHA:805 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling |
OMIM:616393 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hair-pulling, Attention deficit hyperactivity disorder |
OMIM:620330 |
Monosomy 22Q13.3 |
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Hair-pulling, Obesity |
ORPHA:48652 |
Mend Syndrome |
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Failure to thrive, Abnormal social behavior |
ORPHA:401973 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling |
ORPHA:447997 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Abnormal social behavior |
ORPHA:1675 |
Williams Syndrome |
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Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder, Cholelithiasis, ... |
ORPHA:904 |