Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| JeKo-1 | EFO_0005387 | |
| Tay-Sachs disease AB variant | MONDO_0010099 | [GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.] |
| taurodontism | MONDO_0010098 | [Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.] |
| Cold-induced sweating syndrome 1 | MONDO_0010091 | [Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.] |
| cold-induced sweating syndrome | MONDO_0015526 | [Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.] |
| Summitt syndrome | MONDO_0010090 | [Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.] |
| Populus yunnanensis | NCBITaxon_242124 | |
| Filippi syndrome | MONDO_0010092 | [Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.] |
| ataxia-tapetoretinal degeneration syndrome | MONDO_0010095 | |
| HCC2998 | EFO_0005370 | |
| spondylocarpotarsal synostosis syndrome | MONDO_0010094 | [Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.] |
| HCC1806 | EFO_0005373 | |
| GM07029 | CLO_0036870 | [INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CEPH/UTAH PEDIGREE 1340 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19] |
| HCC227 | EFO_0005374 | |
| HCC1195 | EFO_0005371 | |
| 1,7-dimethylxanthine | CHEBI_25858 | [A dimethylxanthine having the two methyl groups located at positions 1 and 7. It is a metabolite of caffeine and theobromine in animals.] |
| HCC1419 | EFO_0005372 | |
| UACC-62 | EFO_0005377 | |
| obsolete_intermittent maple syrup urine disease | Orphanet_268173 | |
| HCC2935 | EFO_0005375 |