Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| phosphorus metabolism disease | MONDO_0002319 | [A metabolic disorder that affects the phosphate homeostasis.] |
| obsolete_larynx anomaly | Orphanet_156249 | |
| obsolete_cylindrical spirals myopathy | Orphanet_171886 | |
| intracranial hemangioma | MONDO_0002328 | [A hemangioma arising from the brain and meninges.] |
| central nervous system hemangioma | MONDO_0003241 | [A hemangioma arising from the brain and spinal cord.] |
| sensory peripheral neuropathy | MONDO_0002321 | [Inflammation or degeneration of the sensory nerves.] |
| obsolete_myopathy with hexagonally cross-linked tubular arrays | Orphanet_171889 | |
| urinary bladder cancer | MONDO_0001187 | [A primary or metastatic malignant neoplasm involving the bladder.] |
| atrazine | CHEBI_15930 | [A chloro-1,3,5-triazine herbicide that has formula C8H14ClN5., Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI), Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.] |
| sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | MONDO_0014314 | |
| methyl (-)-jasmonate | CHEBI_15929 | |
| autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | MONDO_0014313 | |
| MRCS syndrome | MONDO_0016979 | [MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.] |
| azoxystrobin | CHEBI_40909 | |
| autosomal recessive spinocerebellar ataxia 15 | MONDO_0014311 | [Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.] |
| pancytopenia-developmental delay syndrome | MONDO_0014317 | |
| limb-girdle muscular dystrophy | MONDO_0016971 | [Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.] |
| hereditary sclerosing poikiloderma with tendon and pulmonary involvement | MONDO_0014310 | [Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.] |
| Rare otorhinolaryngological malformation | Orphanet_96333 | |
| inflammatory and toxic neuropathy | MONDO_0002336 |