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id string | names sequence | dbLinks dict | category string | description string |
|---|---|---|---|---|
H00001 | [
"B-cell acute lymphoblastic leukemia",
"B-cell acute lymphocytic leukemia"
] | {
"icd10": [
"C83.5",
"C91.0"
],
"mesh": [
"D054198"
]
} | Cancer | Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL an... |
H00002 | [
"T-cell acute lymphoblastic leukemia",
"T-cell acute lymphocytic leukemia"
] | {
"icd10": [
"C83.5",
"C91.0"
],
"mesh": [
"D054218"
]
} | Cancer | Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL an... |
H00003 | [
"Acute myeloid leukemia"
] | {
"icd10": [
"C92.0"
],
"mesh": [
"D015470"
]
} | Cancer | Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias and remains the most common cause of leukemia death. ... |
H00004 | [
"Chronic myeloid leukemia"
] | {
"icd10": [
"C92.1"
],
"mesh": [
"D015464"
]
} | Cancer | null |
H00005 | [
"Chronic lymphocytic leukemia",
"SUPERGRP Non-Hodgkin lymphoma [DS:H02418]"
] | {
"icd10": [
"C91.1"
],
"mesh": [
"D015451"
]
} | Cancer | null |
H00006 | [
"Hairy cell leukemia",
"SUPERGRP Non-Hodgkin lymphoma [DS:H02418]"
] | {
"icd10": [
"C91.4"
],
"mesh": [
"D007943"
]
} | Cancer | null |
H00007 | [
"Hodgkin lymphoma"
] | {
"icd10": [
"C81"
],
"mesh": [
"D006689"
]
} | Cancer | null |
H00008 | [
"Burkitt lymphoma",
"SUPERGRP Non-Hodgkin lymphoma [DS:H02418]",
"Primary central nervous system lymphoma [DS:H02424]"
] | {
"icd10": [
"C83.7"
],
"mesh": [
"D002051"
]
} | Cancer | null |
H00009 | [
"Adult T-cell leukemia"
] | {
"icd10": [
"C91.5"
],
"mesh": [
"D015459"
]
} | Cancer | null |
H00010 | [
"Multiple myeloma"
] | {
"icd10": [
"C90.0"
],
"mesh": [
"D009101"
]
} | Cancer | null |
H00011 | [
"Lymphoplasmacytic lymphoma",
"SUPERGRP Non-Hodgkin lymphoma [DS:H02418]"
] | {
"icd10": [
"C83.8",
"C88.0"
]
} | Cancer | null |
H00012 | [
"Polycythemia vera"
] | {
"icd10": [
"D45"
],
"mesh": [
"D011087"
]
} | Cancer | null |
H00013 | [
"Small cell lung cancer"
] | {
"icd10": [
"C34"
],
"mesh": [
"D055752"
]
} | Cancer | null |
H00014 | [
"Non-small cell lung cancer",
"SUPERGRP Solid tumor [DS:H02421]"
] | {
"icd10": [
"C34"
],
"mesh": [
"D002289"
]
} | Cancer | null |
H00015 | [
"Malignant pleural mesothelioma"
] | {
"icd10": [
"C45"
],
"mesh": [
"D008654"
]
} | Cancer | null |
H00016 | [
"Oral cancer"
] | {
"icd10": [
"C00",
"C01",
"C02",
"C03",
"C04",
"C05",
"C06"
],
"mesh": [
"D009062"
]
} | Cancer | Oral cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations, according to the International Classification of Diseases. Nevertheless, the term is synonymous to squamous cell carc... |
H00017 | [
"Esophageal cancer"
] | {
"icd10": [
"C15"
],
"mesh": [
"D004938"
]
} | Cancer | null |
H00018 | [
"Gastric cancer"
] | {
"icd10": [
"C16"
],
"mesh": [
"D013274"
]
} | Cancer | null |
H00019 | [
"Pancreatic cancer",
"SUPERGRP Solid tumor [DS:H02421]"
] | {
"icd10": [
"C25"
],
"mesh": [
"D010190"
]
} | Cancer | null |
H00020 | [
"Colorectal cancer"
] | {
"icd10": [
"C18",
"C19",
"C20"
],
"mesh": [
"D015179"
]
} | Cancer | Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined oncogenes and tumour suppressor genes (TSG). Two major mechanisms of genomic instability have been identified in ... |
H00021 | [
"Renal cell carcinoma"
] | {
"icd10": [
"C64"
],
"mesh": [
"D002292"
]
} | Cancer | null |
H00022 | [
"Bladder cancer"
] | {
"icd10": [
"C67"
],
"mesh": [
"D001749"
]
} | Cancer | null |
H00023 | [
"Testicular cancer"
] | {
"icd10": [
"C62"
],
"mesh": [
"D013736"
]
} | Cancer | null |
H00024 | [
"Prostate cancer"
] | {
"icd10": [
"C61"
]
} | Cancer | Prostate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathw... |
H00025 | [
"Penile cancer"
] | {
"icd10": [
"C60"
],
"mesh": [
"D010412"
]
} | Cancer | null |
H00026 | [
"Endometrial cancer"
] | {
"icd10": [
"C54"
],
"mesh": [
"D016889"
]
} | Cancer | null |
H00027 | [
"Ovarian cancer"
] | {
"icd10": [
"C56"
],
"mesh": [
"D010051"
]
} | Cancer | null |
H00028 | [
"Choriocarcinoma"
] | {
"icd10": [
"C58"
],
"mesh": [
"D002822"
]
} | Cancer | null |
H00029 | [
"Vulvar cancer"
] | {
"icd10": [
"C51"
],
"mesh": [
"D014846"
]
} | Cancer | null |
H00030 | [
"Cervical cancer"
] | {
"icd10": [
"C53"
],
"mesh": [
"D002583"
]
} | Cancer | null |
H00031 | [
"Breast cancer"
] | {
"icd10": [
"C50"
],
"mesh": [
"D001943"
]
} | Cancer | null |
H00032 | [
"Thyroid cancer"
] | {
"icd10": [
"C73"
],
"mesh": [
"D013964"
]
} | Cancer | Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells. Their behavior varies from the indolent growing, well-differentiated papillary and follicular carcinomas (PTC and FTC... |
H00033 | [
"Adrenal carcinoma"
] | {
"icd10": [
"C74"
],
"mesh": [
"D000306"
]
} | Cancer | null |
H00034 | [
"Carcinoid"
] | {
"icd10": [
"C17"
],
"mesh": [
"D002276"
]
} | Cancer | null |
H00035 | [
"Ewing sarcoma",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C41"
],
"mesh": [
"D012512"
]
} | Cancer | null |
H00036 | [
"Osteosarcoma",
"SUPERGRP Solid tumor [DS:H02421]"
] | {
"icd10": [
"C41"
],
"mesh": [
"D012516"
]
} | Cancer | null |
H00037 | [
"Rhabdomyosarcoma"
] | {
"icd10": [
"C49"
],
"mesh": [
"D018232"
]
} | Cancer | Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladd... |
H00038 | [
"Melanoma"
] | {
"icd10": [
"C43"
],
"mesh": [
"D008545"
]
} | Cancer | Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The only known environmental risk factor is exposure to ultraviolet (UV) light and in people with fair skin the risk is ... |
H00039 | [
"Basal cell carcinoma"
] | {
"icd10": [
"C44"
],
"mesh": [
"D002280"
]
} | Cancer | null |
H00040 | [
"Squamous cell carcinoma"
] | {
"icd10": [
"C44"
],
"mesh": [
"D002294"
]
} | Cancer | null |
H00041 | [
"Kaposi sarcoma",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C46"
],
"mesh": [
"D012514"
]
} | Cancer | null |
H00042 | [
"Glioma",
"SUPERGRP Solid tumor [DS:H02421]"
] | {
"icd10": [
"C71"
],
"mesh": [
"D005910"
]
} | Cancer | null |
H00043 | [
"Neuroblastoma"
] | {
"icd10": [
"C38",
"C47",
"C48",
"C72",
"C74",
"C76"
],
"mesh": [
"D009447"
]
} | Cancer | null |
H00044 | [
"Cancer of the anal canal"
] | {
"icd10": [
"C21"
],
"mesh": [
"D001005"
]
} | Cancer | null |
H00045 | [
"Pancreatic neuroendocrine tumor"
] | {
"icd10": [
"C25.4"
],
"mesh": [
"D018273"
]
} | Cancer | null |
H00046 | [
"Cholangiocarcinoma",
"SUPERGRP Solid tumor [DS:H02421]"
] | {
"icd10": [
"C22"
],
"mesh": [
"D018281"
]
} | Cancer | null |
H00047 | [
"Gallbladder cancer"
] | {
"icd10": [
"C23"
],
"mesh": [
"D005706"
]
} | Cancer | null |
H00048 | [
"Hepatocellular carcinoma",
"Liver cancer"
] | {
"icd10": [
"C22"
],
"mesh": [
"D006528"
]
} | Cancer | null |
H00049 | [
"Myxoid liposarcoma",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C49"
],
"mesh": [
"D018208"
]
} | Cancer | null |
H00050 | [
"Synovial sarcoma",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C49"
],
"mesh": [
"D013584"
]
} | Cancer | null |
H00051 | [
"Alveolar soft part sarcoma",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C49"
],
"mesh": [
"D018234"
]
} | Cancer | null |
H00052 | [
"Clear cell sarcoma of soft tissue",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C49"
],
"mesh": [
"D018227"
]
} | Cancer | null |
H00053 | [
"Extraskeletal myxoid chondrosarcoma",
"SUPERGRP Solid tumor [DS:H02421]",
"Soft tissue sarcomas [DS:H02427]"
] | {
"icd10": [
"C41"
],
"mesh": [
"D002813"
]
} | Cancer | null |
H00054 | [
"Nasopharyngeal cancer"
] | {
"icd10": [
"C11"
],
"mesh": [
"D009303"
]
} | Cancer | null |
H00055 | [
"Laryngeal cancer",
"SUPERGRP Head and neck cancer [DS:H02420]",
"Solid tumor [DS:H02421]"
] | {
"icd10": [
"C32"
],
"mesh": [
"D007822"
]
} | Cancer | null |
H00056 | [
"Alzheimer disease",
"Dementia due to Alzheimer disease"
] | {
"icd10": [
"G30"
],
"mesh": [
"D000544"
]
} | Neurodegenerative disease | null |
H00057 | [
"Parkinson disease"
] | {
"icd10": [
"G20"
],
"mesh": [
"D010300"
]
} | Neurodegenerative disease | null |
H00058 | [
"Amyotrophic lateral sclerosis (ALS)",
"Lou Gehrig disease"
] | {
"icd10": [
"G12.2"
],
"mesh": [
"D000690"
]
} | Neurodegenerative disease | Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SO... |
H00059 | [
"Huntington disease"
] | {
"icd10": [
"G10"
],
"mesh": [
"D006816"
]
} | Neurodegenerative disease | null |
H00060 | [
"Dentatorubropallidoluysian atrophy (DRPLA)",
"SUPERGRP Progressive myoclonic epilepsy [DS:H00810]",
"Spinocerebellar degeneration [DS:H01616]"
] | {
"icd10": [
"G11.2"
]
} | Neurodegenerative disease | null |
H00061 | [
"Prion disease",
"Creutzfeldt-Jacob disease (CJD)",
"Gerstmann-Straussler disease (GSD)",
"Gerstmann-Straussler-Scheinker disease (GSSD)",
"Fatal familial insomnia (FFI)"
] | {
"icd10": [
"A81.0"
],
"mesh": [
"D017096"
]
} | Neurodegenerative disease | null |
H00062 | [
"Spinal and bulbar muscular atrophy (SBMA)",
"Kennedy disease"
] | {
"icd10": [
"G12.1"
],
"mesh": [
"D020966"
]
} | Neurodegenerative disease | null |
H00063 | [
"Spinocerebellar ataxia (SCA)"
] | {
"icd10": [
"G31.9"
],
"mesh": [
"D020754"
]
} | Neurodegenerative disease | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregat... |
H00064 | [
"Ataxia telangiectasia",
"Louis-Bar syndrome",
"Boder-Sedgwick syndrome",
"SUPERGRP Immunodeficiency associated with DNA repair defects [DS:H00094]",
"Disorders of adaptive immunity [DS:H02526]",
"Primary immunodeficiency disease [DS:H01725]",
"Ataxia with ocular apraxia [DS:H00848]",
"Spinocerebella... | {
"icd10": [
"G11.3"
],
"mesh": [
"D001260"
]
} | Neurodegenerative disease; Primary immunodeficiency | null |
H00065 | [
"Alexander disease"
] | {
"mesh": [
"D038261"
]
} | Neurodegenerative disease | null |
H00066 | [
"Lewy body dementia (LBD)",
"Dementia with Lewy bodies (DLB)"
] | {
"icd10": [
"G31.8"
],
"mesh": [
"D020961"
]
} | Neurodegenerative disease | null |
H00067 | [
"Friedreich ataxia",
"SUPERGRP Spinocerebellar degeneration [DS:H01616]"
] | {
"icd10": [
"G11.1"
],
"mesh": [
"D005621"
]
} | Neurodegenerative disease | null |
H00068 | [
"Leber hereditary optic atrophy",
"Leber optic atrophy",
"SUPERGRP Mitochondrial disease [DS:H01427]"
] | {
"icd10": [
"H47.2"
],
"mesh": [
"D029242"
]
} | Nervous system disease; Congenital disorder of metabolism | null |
H00069 | [
"Glycogen storage disease"
] | {
"icd10": [
"E74.0"
],
"mesh": [
"D006008"
]
} | Congenital disorder of metabolism | Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for proces... |
H00070 | [
"Galactosemia"
] | {
"icd10": [
"E74.2"
],
"mesh": [
"D005693"
]
} | Congenital disorder of metabolism | Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts. |
H00071 | [
"Hereditary fructose intolerance",
"Fructosemia"
] | {
"icd10": [
"E74.1"
],
"mesh": [
"D005633"
]
} | Congenital disorder of metabolism | null |
H00072 | [
"Pyruvate dehydrogenase complex deficiency"
] | {
"icd10": [
"E74.4"
],
"mesh": [
"D015325"
]
} | Congenital disorder of metabolism | Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. The PDH complex c... |
H00073 | [
"Pyruvate carboxylase deficiency",
"SUPERGRP Secondary hyperammonemia [DS:H01400]"
] | {
"icd10": [
"E74.4"
],
"mesh": [
"D015324"
]
} | Inherited metabolic disease | null |
H00074 | [
"Canavan disease"
] | {
"icd10": [
"E75.2"
],
"mesh": [
"D017825"
]
} | Inherited metabolic disease; Neurodegenerative disease | null |
H00075 | [
"Refsum disease",
"Heredopathia atactica polyneuritiformis"
] | {
"icd10": [
"G60.1"
],
"mesh": [
"D012035"
]
} | Neurodegenerative disease; Congenital disorder of metabolism; Peroxisomal disease | null |
H00076 | [
"Cockayne syndrome",
"SUPERGRP Disorders of nucleotide excision repair [DS:H00403]"
] | {
"icd10": [
"Q87.1"
],
"mesh": [
"D003057"
]
} | Neurodegenerative disease | null |
H00077 | [
"Progressive supranuclear palsy",
"Steele-Richardson-Olszewski syndrome",
"SUPERGRP Frontotemporal lobar degeneration [DS:H00078]"
] | {
"icd10": [
"G23.1"
],
"mesh": [
"D013494"
]
} | Neurodegenerative disease | null |
H00078 | [
"Frontotemporal lobar degeneration"
] | {
"icd10": [
"G31.0"
],
"mesh": [
"D057174"
]
} | Neurodegenerative disease | Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) an... |
H00079 | [
"Asthma"
] | {
"icd10": [
"J45"
],
"mesh": [
"D001249"
]
} | Immune system disease | Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells (APC) that line the airway. Upon recognition of... |
H00080 | [
"Systemic lupus erythematosus"
] | {
"icd10": [
"M32"
],
"mesh": [
"D008180"
]
} | Immune system disease | null |
H00081 | [
"Hashimoto thyroiditis"
] | {
"icd10": [
"E06.3"
],
"mesh": [
"D050031"
]
} | Immune system disease | null |
H00082 | [
"Graves disease"
] | {
"icd10": [
"E05.0"
],
"mesh": [
"D006111"
]
} | Immune system disease | null |
H00083 | [
"Allograft rejection"
] | {
"icd10": [
"T86"
]
} | Immune system disease | null |
H00084 | [
"Graft-versus-host disease"
] | {
"icd10": [
"T86"
],
"mesh": [
"D006086"
]
} | Immune system disease | null |
H00085 | [
"Agammaglobulinemias"
] | {
"icd10": [
"D80"
],
"mesh": [
"D000361"
]
} | Immune system disease | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias (AGM). Defects in early B cell development are char... |
H00086 | [
"Hyper IgM syndromes, autosomal recessive type",
"SUPERGRP Disorders of adaptive immunity [DS:H02526]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D80"
],
"mesh": [
"D053306"
]
} | Immune system disease | null |
H00087 | [
"Other humoral immunodeficiencies",
"SUPERGRP Disorders of adaptive immunity [DS:H02526]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D80"
],
"mesh": [
"C537362"
]
} | Immune system disease | null |
H00088 | [
"Common variable immunodeficiency",
"SUPERGRP Disorders of adaptive immunity [DS:H02526]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D80"
],
"mesh": [
"D017074"
]
} | Immune system disease | null |
H00089 | [
"IFN-gamma/IL-12 axis",
"Mendelian susceptibility to mycobacterial disease (MSMD)",
"SUPERGRP Disorders of innate immunity [DS:H02525]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D84.8"
]
} | Primary immunodeficiency | null |
H00090 | [
"NK cell defects",
"SUPERGRP Disorders of innate immunity [DS:H02525]",
"Primary immunodeficiency disease [DS:H01725]"
] | {} | Primary immunodeficiency | null |
H00091 | [
"T-B+Severe combined immunodeficiency",
"SUPERGRP Disorders of adaptive immunity [DS:H02526]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D81"
],
"mesh": [
"D053632"
]
} | Primary immunodeficiency | null |
H00092 | [
"T-B-Severe combined immunodeficiency"
] | {
"icd10": [
"D81"
],
"mesh": [
"C563440"
]
} | Primary immunodeficiency | Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairmen... |
H00093 | [
"Combined immunodeficiency"
] | {
"icd10": [
"D81"
],
"mesh": [
"D053632"
]
} | Primary immunodeficiency | The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. Hyper-IgM syndrome (HIM) represents a group of distinct entities characterized b... |
H00094 | [
"Immunodeficiency associated with DNA repair defects"
] | {
"icd10": [
"D82.8",
"G11.3"
],
"mesh": [
"D001260",
"D049932",
"C564694",
"D001816"
]
} | Primary immunodeficiency | A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. Ataxia te... |
H00095 | [
"Ectodermal dysplasia and immunodeficiency"
] | {
"icd10": [
"D82.8"
],
"mesh": [
"C567411",
"C536181"
]
} | Immune system disease | Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function of ectodermal derivatives, including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic... |
H00096 | [
"Defects of toll-like receptor signaling"
] | {} | Primary immunodeficiency | Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial role downstream of individual TLR and IL-1R receptors and u... |
H00097 | [
"WHIM syndrome",
"SUPERGRP Disorders of innate immunity [DS:H02525]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D81.8"
],
"mesh": [
"C536697"
]
} | Primary immunodeficiency | null |
H00098 | [
"Chronic granulomatous disease",
"SUPERGRP Disorders of innate immunity [DS:H02525]",
"Primary immunodeficiency disease [DS:H01725]"
] | {
"icd10": [
"D71"
],
"mesh": [
"D006105"
]
} | Primary immunodeficiency | null |
H00099 | [
"Leukocyte adhesion deficiency",
"SUPERGRP Disorders of innate immunity [DS:H02525]",
"Primary immunodeficiency disease [DS:H01725]"
] | {} | Primary immunodeficiency | null |
H00100 | [
"Neutropenic disorders"
] | {
"icd10": [
"D70"
]
} | Primary immunodeficiency | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections. Severe congenital neutropeni... |
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