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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02408 | Dipylidiasis | Dipylidiasis is a rare zoonotic infectious disease caused by Dipylidium caninum, a common intestinal tapeworm of dogs and cats. Humans get infection by accidental ingestion of the intermediate hosts. This ... | Parasitic infectious disease | |
| H02409 | Dicrocoeliasis | Dicrocoeliosis is a rare food-borne parasitic zoonosis caused by Dicrocoelium dendriticum, commonly known as the Lancet liver fluke. Human infection occurs by accidental ingestion of the second intermediate ... | Parasitic infectious disease | |
| H02410 | Myelodysplastic/myeloproliferative neoplasms | Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... | Cancer | |
| H02411 | Chronic myelomonocytic leukemia | Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping ... | Cancer | |
| H02412 | Atypical chronic myeloid leukemia | Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient ... | Cancer | |
| H02413 |
Epidemic myalgia Epidemic pleurodynia Bornholm disease |
Epidemic myalgia, also known as epidemic pleurodynia or Bornholm disease, is an infectious disease caused by group B coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses ... | Viral infectious disease | |
| H02414 | Autoinflammation, panniculitis, and dermatosis syndrome | Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset ... | Immune system disease | |
| H02415 |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical ... | Congenital malformation | |
| H02416 | Cimicosis | Cimicosis is an ectoparasitosis caused by the bite of bed bugs, belonging to the family Cimicidae. Although the Cimicidae comprises more than 90 species, only two species, Cimex lectularius and C. hemipterus ... | Parasitic infectious disease | |
| H02417 | Gingival fibromatosis with hypertrichosis | Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age ... | Congenital malformation | |
| H02418 | Non-Hodgkin lymphoma | Non-Hodgkin lymphoma (NHL) is one of the most common hematologic malignancies worldwide. NHL includes malignant tumors of the lymphoid tissues variously resulting from the clonal growth of B cells, T cells ... | Cancer | |
| H02419 | Glycine encephalopathy with normal serum glycine | Glycine encephalopathy [DS:H00191], also known as nonketotic hyperglycinemia (NKH), is characterized by severe neurologic dysfunctions. Recently, some individuals with NKH-like symptoms but lacking the ... | Inherited metabolic disorder | |
| H02420 | Head and neck cancer | Head and neck cancers are a heterogeneous collection of malignancies of the upper aerodigestive tract, salivary glands and thyroid. The most common type of cancer in the head and neck is squamous cell ... | Cancer | |
| H02421 | Solid tumor | Cancers can be classified into two broad types: hematological or solid tumors. There are two main types of solid tumors: carcinomas and sarcomas. Most solid tumors are derived from epithelial cells. Carcinomas ... | Cancer | |
| H02422 | Retinitis pigmentosa with skeletal anomalies | Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological ... | Congenital malformation | |
| H02423 |
Phthiriasis Phthiriasis pubis Pubic lice infestation |
Phthiriasis is the result of infestation by Phthirus pubis (crab louse), sucking lice belonging to the family Pthiridae. Phthirus pubis is transmitted mainly by sexual contact, but it also may be transmitted ... | Parasitic infectious disease | |
| H02424 | Primary central nervous system lymphoma | Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; ... | Cancer | |
| H02425 | Erdheim-Chester disease | Erdheim-Chester disease (ECD) is a non-Langerhans-cell form of histiocytosis characterized by infiltration of tissues by foamy histiocytes. Among the more common sites of involvement are the skeleton, ... | Cancer | |
| H02426 | EDICT syndrome | EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution ... | Congenital malformation | |
| H02427 | Soft tissue sarcomas | Soft-tissue sarcomas (STS) are a rare and heterogeneous group of tumors with mesenchymal origin, including muscle, endothelium, cartilage. Several common STSs have harbored translocations, which represent ... | Cancer | |
| H02428 | Trichosporonosis | Trichosporonosis is a rare mycosis caused by various species in the Trichosporon genus. The first description of clinical isolates of Trichosporon spp. was in 1867. This yeast-like pathogen may cause deep-seated ... | Fungal infectious disease | |
| H02429 | Actinic keratosis | Actinic keratosis (AK) is a common cutaneous lesion associated with chronic exposure to ultraviolet (UV) radiation. AK presents scaly, erythematous papule or plaque and is considered the earliest clinically ... | Skin disease | |
| H02430 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which ... | Nervous system disease | |
| H02431 | Cerebellar hypoplasia, epilepsy, and global developmental delay | Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual ... | Congenital malformation | |
| H02432 | Butyrylcholinesterase deficiency | Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular ... | Inherited metabolic disorder | |
| H02433 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result ... | Inherited metabolic disorder | |
| H02434 | Diffuse large B-cell lymphoma, not otherwise specified | Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of ... | Cancer | |
| H02435 | Deafness-infertility syndrome | Deafness-infertility syndrome (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes ... | Congenital malformation | |
| H02436 | Al-Gazali syndrome | Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ... | Congenital malformation | |
| H02437 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS). | Congenital malformation | |
| H02438 | Hyperglycinemia, lactic acidosis, and seizures | Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is characterized by neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Mutations ... | Inherited metabolic disorder | |
| H02439 | Short stature, developmental delay, congenital heart defect | Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme ... | Inherited metabolic disorder | |
| H02440 | Fleck retina, familial benign | Familial benign fleck retina (FRFB) is an autosomal recessive condition associated with a distinctive retinal appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking ... | Nervous system disease | |
| H02441 | HUPRA syndrome | HUPRA syndrome is a multisystemic mitochondrial cytopathy of infancy, characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. It has been reported that mutations in SARS2 ... | Inherited metabolic disorder | |
| H02442 | Common cold | The common cold is a viral infection of the upper respiratory tract. Many types of viruses can cause a common cold, with rhinoviruses being the most common. Certain coronaviruses are also implicated in ... | Viral infectious disease | |
| H02444 | Luscan-Lumish syndrome | Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems. | Congenital malformation | |
| H02445 | Microcornea, myopic chorioretinal atrophy, and telecanthus | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role ... | Congenital malformation | |
| H02446 | Autosomal recessive macrocephaly/megalencephaly syndrome | Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms ... | Congenital malformation | |
| H02447 | Myopathy with extrapyramidal signs | Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive disorder characterized by proximal myopathy, learning difficulties, and a progressive extrapyramidal movement disorder. Mutations in ... | Nervous system disease | |
| H02448 | Harel-Yoon syndrome | Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that ... | Nervous system disease |
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