Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
male reproductive organ cancer	EFO_0007355	[A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.]
reproductive system cancer	MONDO_0002149	[A malignant neoplasm involving the reproductive organ]
dentin matrix acidic phosphoprotein 1 measurement	EFO_0020318	[The determination of the amount of dentin matrix acidic phosphoprotein 1 in a sample]
desert hedgehog protein n-product measurement	EFO_0020319	[The determination of the amount of desert hedgehog protein n-product in a sample]
mast-cell leukemia	EFO_0007359	[Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.]
DCTP pyrophosphatase 1 measurement	EFO_0020314	[The determination of the amount of DCTP pyrophosphatase 1 in a sample]
Thoracolumbar scoliosis	HP_0002944
scoliosis	EFO_0004273	[A congenital or acquired spinal deformity characterized by lateral curvature of the spine., An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)]
decorin measurement	EFO_0020315	[The determination of the amount of decorin in a sample]
delta-like protein 1 measurement	EFO_0020316	[The determination of the amount of delta-like protein 1 in a sample]
obsolete_Monosomy 13q14	Orphanet_1587
delta-like protein 4 measurement	EFO_0020317	[The determination of the amount of delta-like protein 4 in a sample]
obsolete_adenylosuccinate lyase deficiency	Orphanet_46
Macrocephaly	HP_0000256	[Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.]
Abnormal skull morphology	HP_0000929	[An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.]
carbonic anhydrase-related protein 10 measurement	EFO_0020233	[The determination of the amount of carbonic anhydrase-related protein 10 in a sample]
X-linked agammaglobulinemia	Orphanet_47	[X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.]
carboxypeptidase e measurement	EFO_0020234	[The determination of the amount of carboxypeptidase e in a sample]
obsolete_congenital bilateral absence of vas deferens	Orphanet_48
cardiotrophin-1 measurement	EFO_0020235	[The determination of the amount of cardiotrophin-1 in a sample]