Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
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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Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... |
OMIM:618986 |
Neutrophilia, Hereditary |
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Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Shwachman-Diamond Syndrome |
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Increased mean corpuscular volume, Failure to thrive, Exocrine pancreatic insufficiency, Neutrope... |
ORPHA:811 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Mast Cell Sarcoma |
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Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Necrobiosis Lipoidica |
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Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Abnormal social behavior |
ORPHA:436151 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Decreased liver function, Neutropenia, Vacuolated lymphocytes, Hem... |
ORPHA:167 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Aggressive Systemic Mastocytosis |
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Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
Chediak-Higashi Syndrome |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... |
OMIM:214500 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Acute pancreatitis, Per... |
OMIM:618935 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Deafness-Lymphedema-Leukemia Syndrome |
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Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Leukocyte Adhesion Deficiency |
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Leukocytosis, Polycythemia, Peritonitis, Impaired neutrophil chemotaxis, Thrombocytosis, Bone mar... |
ORPHA:2968 |
Aregenerative Anemia |
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Abnormal proportion of CD8-positive T cells, Neutropenia, Cognitive impairment, Erythroid hypopla... |
ORPHA:101096 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... |
OMIM:308230 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Neutrophilia, Brain abscess, Abnormality of the pancreas, Elevated hepatic transaminase, Weight l... |
ORPHA:54251 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Obesity, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Immunodeficiency 91 And Hyperinflammation |
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Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatospl... |
OMIM:619644 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Hepatic failure, Aplastic anemia, B lymphocytopenia, Increased proportion of CD... |
ORPHA:2442 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst |
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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Impaired oxidative burst, Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Granuloma, ... |
OMIM:306400 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Adult-Onset Still Disease |
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Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated hepatic transaminase, Hepatitis,... |
ORPHA:829 |
Hsd10 Disease |
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Abnormal social behavior |
ORPHA:391417 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Leukopenia, Elevated hepatic transaminase, Anemia, Thrombocytopenia, ... |
ORPHA:91547 |
Cryptogenic Organizing Pneumonia |
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Weight loss, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Mastocytosis |
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Hepatomegaly, Splenomegaly, Mastocytosis, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Hepatomegaly, Neutrophilia, Splenomegaly, Abscess, Failure to thrive in infancy |
OMIM:612852 |
Psoriasis 14, Pustular |
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Cholangitis, Neutrophilia, Leukocytosis |
OMIM:614204 |
Metachromatic Leukodystrophy, Adult Form |
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Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Cholecystitis... |
ORPHA:309271 |
Dopa-Responsive Dystonia |
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Fatigable weakness, Abnormal social behavior |
ORPHA:255 |
Pneumocystosis |
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Increased circulating antibody level, Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Idiopathic Hypereosinophilic Syndrome |
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Failure to thrive, Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative dis... |
ORPHA:3260 |
Pmm2-Cdg |
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Failure to thrive, Impaired neutrophil chemotaxis, Elevated hepatic transaminase, Hepatic fibrosi... |
ORPHA:79318 |
Metachromatic Leukodystrophy, Juvenile Form |
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Cholecystitis, Progressive psychomotor deterioration, Abnormal social behavior |
ORPHA:309263 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Abnormal social behavior, Mental deterioration, Splenomegaly, Hepatosplenomegaly, C... |
ORPHA:646 |
Hennekam-Beemer Syndrome |
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Failure to thrive, Mastocytosis |
ORPHA:2135 |
Herpes Simplex Virus Encephalitis |
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Neutrophilia, Leukocytosis |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
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Leukopenia, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Leukocyte Adhesion Deficiency Type Ii |
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Failure to thrive, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Small for gestati... |
ORPHA:99843 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior |
ORPHA:530983 |
Hyper-Igd Syndrome |
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Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:260920 |
Japanese Encephalitis |
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Increased circulating IgM level, Increased circulating antibody level, Neutrophilia, Cognitive im... |
ORPHA:79139 |
Sweet Syndrome |
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Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... |
ORPHA:3243 |
48,Xxxy Syndrome |
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Obesity, Abnormal social behavior |
ORPHA:96263 |
Familial Mediterranean Fever |
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Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Peritonitis |
OMIM:249100 |
Choreoacanthocytosis |
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Bradyphrenia, Hepatomegaly, Splenomegaly, Mental deterioration, Elevated circulating aspartate am... |
ORPHA:2388 |
Fg Syndrome Type 1 |
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Slender build, Abnormal social behavior |
ORPHA:93932 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal cortical gyration, Memory impairment, Abnormal social behavior |
ORPHA:314647 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Cholecystitis, Abnormal social behavior |
ORPHA:309256 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Hemoperitoneum, Hepatic failure, Leukopen... |
ORPHA:99827 |
Childhood Absence Epilepsy |
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Abnormal social behavior |
ORPHA:64280 |
Prader-Willi Syndrome Due To Translocation |
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Obesity, Impaired social interactions, Abnormal social behavior |
ORPHA:177907 |
Yellow Fever |
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Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Elevated circulating aspartate aminotransfera... |
ORPHA:99829 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Overfriendliness, Slender build, Small for gestational age, Abnormal social behavior |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Overfriendliness, Slender build, Small for gestational age, Abnormal social behavior |
ORPHA:363958 |
Mend Syndrome |
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Failure to thrive, Abnormal social behavior |
ORPHA:401973 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Abnormal social behavior |
ORPHA:1675 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling |
OMIM:616393 |
Monosomy 22Q13.3 |
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Obesity, Hair-pulling |
ORPHA:48652 |
Tuberous Sclerosis Complex |
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Hepatic cysts, Abnormal social behavior |
ORPHA:805 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling |
ORPHA:447997 |
Williams Syndrome |
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Overfriendliness, Cholelithiasis, Abnormal social behavior, Obesity, Failure to thrive in infancy |
ORPHA:904 |