Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| obsolete bovine hemorrhagic syndrome | DOID_4273 | [A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes.] |
| obsolete Pestivirus infectious disease | DOID_4274 | [A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder.] |
| penis basal cell carcinoma | DOID_4277 | [A basal cell carcinoma that is located_in the penis.] |
| infundibulocystic basal cell carcinoma | DOID_4279 | [A variant of basal cell carcinoma characterized by follicular differentiation.] |
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency | DOID_0080580 | [A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.] |
| 3-Methylcrotonyl-CoA carboxylase deficiency | DOID_0050710 | [An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.] |
| scrotum basal cell carcinoma | DOID_4278 | |
| hyperekplexia 4 | DOID_0080581 | [A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.] |
| hypotrichosis 14 | DOID_0080582 | [A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.] |
| Wolfram syndrome, mitochondrial form | DOID_0080583 | [A Wolfram syndrome that has_material_basis_in mutation in mtDNA.] |
| Coronavirus infection | DOID_0080599 | [A viral infectious disease that has_material_basis_in Coronavirus.] |
| mesenchymal cell | CL_0008019 | [A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration.] |
| motile cell | CL_0000219 | |
| hyper IgE recurrent infection syndrome 3 | DOID_0080595 | [A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11.] |
| hyper IgE recurrent infection syndrome 4 | DOID_0080596 | [A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.] |
| Kleefstra syndrome | DOID_0080597 | [A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.] |
| Kleefstra syndrome 2 | DOID_0080598 | [A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.] |
| fibroepithelial basal cell carcinoma | DOID_4291 | |
| adamantinoid basal cell epithelioma | DOID_4290 | |
| pigmented basal cell carcinoma | DOID_4282 | [A basal cell carcinoma characterized by brown or black pigmentation.] |