Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_Haddad syndrome | Orphanet_99803 | [Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).] |
| obsolete_hemimegalencephaly | Orphanet_99802 | |
| PEHO-like syndrome | Orphanet_99807 | [PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.] |
| obsolete_oculootodental syndrome | Orphanet_99806 | |
| obsolete_familial porencephaly | Orphanet_99810 | |
| LIG4 syndrome | Orphanet_99812 | [LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).] |
| Neuronal intestinal pseudoobstruction | Orphanet_99811 | [Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.] |
| interaction with host | GO_0051701 | [ An interaction between two organisms living together in more or less intimate association. The term host is used for the larger (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism. ] |
| obsolete_dihydropyrimidinuria | Orphanet_38874 | |
| obsolete_Turcot syndrome with polyposis | Orphanet_99818 | [Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.] |
| Non-polyposis Turcot syndrome | Orphanet_99817 | [Non-polyposis Turcot syndrome or Turcot syndrome type 1 (TS1) is a form of hereditary nonpolyposis colon cancer (HNPCC; see this term) characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors; see this term), relatively few colonic polyps, and adenomas or colorectal carcinoma.] |
| Lynch syndrome | MONDO_0005835 | [An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.] |
| obsolete_familial gestational hyperthyroidism | Orphanet_99819 | |
| Spectrin-associated autosomal recessive cerebellar ataxia | Orphanet_352403 | |
| obsolete_resistance to thyrotropin-releasing hormone syndrome | Orphanet_99832 | |
| flucloxacillin | CHEBI_5098 | |
| obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form | Orphanet_293888 | |
| obsolete_familial isolated arrhythmogenic ventricular dysplasia, biventricular form | Orphanet_293899 | |
| Saccharomyces cerevisiae S288C | NCBITaxon_559292 | |
| obsolete_MORM syndrome | Orphanet_75858 |