All terms in EFO
Label | Id | Description |
---|---|---|
high grade B-cell lymphoma | MONDO_0044889 | [A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.] |
threonate measurement | EFO_0021032 | [Quantification of the amount of threonate in a sample.] |
acetylphosphate measurement | EFO_0021035 | [Quantification of the amount of acetylphosphate in a sample.] |
pantothenate measurement | EFO_0021034 | [Quantification of the amount of pantothenate in a sample.] |
calcium/calmodulin-dependent protein kinase type 1 measurement | EFO_0008062 | [quantification of the amount of calcium/calmodulin-dependent protein kinase type 1 in a sample] |
spondyloepimetaphyseal dysplasia, Isidor-Toutain type | MONDO_0032885 | |
6-deoxotyphasterol | CHEBI_20717 | |
calcium/calmodulin-dependent protein kinase type 1D measurement | EFO_0008063 | [quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample] |
Liang-Wang syndrome | MONDO_0032886 | |
self-healing collodion baby | MONDO_0017267 | [Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.] |
autosomal recessive congenital ichthyosis | MONDO_0017265 | [Autosomal recessive form of inherited ichthyosis.] |
Atrophic scars | HP_0001075 | [Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.] |
calpain I measurement | EFO_0008064 | [quantification of the amount of calpain I in a sample] |
threitol measurement | EFO_0021031 | [Quantification of the amount of threitol in a sample.] |
acral self-healing collodion baby | MONDO_0017268 | [Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.] |
calpastatin measurement | EFO_0008065 | [quantification of the amount of calpastatin in a sample] |
arabinose measurement | EFO_0021030 | [Quantification of the amount of arabinose in a sample.] |
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | MONDO_0032884 | |
6-deoxycathasterone | CHEBI_20714 | |
Heyn-Sproul-Jackson syndrome | MONDO_0032882 |