Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Oncorhynchus tshawytscha	NCBITaxon_74940
glaucoma secondary to spherophakia/ectopia lentis and megalocornea	MONDO_0016559	[Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.]
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	MONDO_0009633
transient congenital hypothyroidism due to neonatal factor	MONDO_0016556
transient congenital hypothyroidism	MONDO_0015792	[A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.]
leukonychia totalis	MONDO_0016557	[Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.]
inherited isolated nail anomaly	MONDO_0019284	[A nail anomaly that is not part of a larger syndrome.]
familial congenital mirror movements	MONDO_0016558	[Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.]
congenital primary megaureter, refluxing form	MONDO_0016551
Abnormal sperm tail morphology	HP_0012868	[A structural abnormality of the sperm tail.]
congenital primary megaureter, nonrefluxing and unobstructed form	MONDO_0016552
isolated congenital hypogonadotropic hypogonadism	MONDO_0016553	[A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.]
non-syndromic male infertility due to sperm motility disorder	MONDO_0017173	[Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.]
congenital primary megaureter, obstructed form	MONDO_0016550
retinoschisis	MONDO_0004579	[An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.]
intestinal impaction	MONDO_0004571
The International HapMap Project	EFO_0002911	[The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.]
obsolete_retinoblastoma	EFO_0002923	[A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.]
International Unit per milliliter	EFO_0002928	[A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume.]
dimensionless unit	UO_0000186	[A derived unit which is a standard measure of physical quantity consisting of only a numerical number without any units., A unit which is a standard measure of physical quantity consisting of only a numerical number without any units.]