Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| GM1 gangliosidosis type 2 | MONDO_0009261 | [GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.] |
| obsolete_severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | Orphanet_329249 | |
| GM1 gangliosidosis type 1 | MONDO_0009260 | [GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.] |
| intellectual disability, X-linked 21 | MONDO_0010256 | [Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.] |
| MEHMO syndrome | MONDO_0010258 | [MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.] |
| syndromic congenital sodium diarrhea | MONDO_0034204 | |
| congenital sodium diarrhea | MONDO_0015170 | [Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.] |
| cognitive decline measurement | EFO_0007710 | [quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas.] |
| cognitive impairment measurement | EFO_0007998 | [quantification of some aspect of cognitive impairment such as its severity or rate of progression] |
| 24 hr schistosomulum | EFO_0007714 | [A tailless cercarium of Schistosoma sp, 24 hours post-infection by skin penetration of the definitive host. ] |
| Platyhelminthes life stage | EFO_0007711 | [Any developmental stage in Platyhelminthes (flatworms)] |
| 3 hr schistosomulum | EFO_0007713 | [A tailless cercarium of Schistosoma sp, 3 hours post-infection by skin penetration of the definitive host.] |
| Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency | Orphanet_329255 | |
| cercarium | EFO_0007712 | [An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host.] |
| carotid artery stiffness measurement | EFO_0007718 | [Quantification of the stiffness of the carotid artery] |
| Spondylocostal dysostosis - hypospadias - intellectual disability | Orphanet_329252 | |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | MONDO_0009268 | [Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.] |
| Gaucher disease type III | MONDO_0009267 | [Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.] |
| Gaucher disease type II | MONDO_0009266 | [Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.] |
| Platyhelminthes adult | EFO_0007715 | [he mature, fully developed life stage of Platyhelminthes, usually capable of sexual reproduction. ] |