I would like to request 11 new terms to be added to EFO. I haven't found it in other ontologies for it to be imported. They are endpoints from the latest Finngen release. The parent term is a suggestion, feel free to change if you have a more adequate term.
Term Label
Definition
Synonyms
parent term
Referece
Pelvic neoplasm
A tumor or abnormal growth occurring in the pelvic region, which can be benign or malignant.
neoplasm (EFO_0000616)
Finngen R11
amino-acid transport disorder
medical conditions associated with a failure of amino acids to be absorbed from the kidney or intestine
metabolic disease (EFO_0000589)
Finngen R11
popliteal nerve lesion
Damage to the popliteal nerve, which runs through the back of the knee, potentially causing weakness, numbness, or pain in the lower leg and foot.
peripheral neuropathy (EFO_0003100)
Finngen R11
Phantom limb syndrome
A condition in which individuals who have had a limb amputated experience sensations, including pain, in the absent limb.
nervous system disease (EFO_0000618)
Finngen R11
Thoracic root disorder
A disorder involving irritation or compression of the nerve roots in the thoracic spine, often resulting in pain or sensory disturbances along the nerve pathway.
thoracic radiculopathy
radiculopathy (MONDO_0002959)
Finngen R11
conjunctival scar
Scar tissue formation on the conjunctiva, the thin membrane covering the white part of the eye, often resulting from injury or infection.
conjunctival disorder (EFO_1000203)
Finngen R11
otorrhagia
Bleeding from the ear, typically due to trauma, infection, or rupture of the eardrum.
disorder of ear (MONDO_0021205)
Finngen R11
otorrhoea
Discharge from the ear, which may be caused by infection, inflammation, or trauma to the ear structures.
disorder of ear (MONDO_0021205)
Finngen R11
fallopian tube atrophy
Degeneration or shrinking of the fallopian tubes, which may impair fertility and is often related to age or chronic conditions.
fallopian tube disease (EFO_0009548)
Finngen R11
ovary atrophy
Shrinking or reduction in function of the ovaries, often related to aging or hormonal changes.
ovarian disease (EFO_0005771)
Finngen R11
Feeding problems of newborn
Difficulties in the ability of a newborn to feed effectively, which can result from issues such as poor sucking reflex, swallowing difficulties, or gastrointestinal disorders.
Hi!
I would like to request 11 new terms to be added to EFO. I haven't found it in other ontologies for it to be imported. They are endpoints from the latest Finngen release. The parent term is a suggestion, feel free to change if you have a more adequate term.
ORCID id: https://orcid.org/0000-0002-2417-7324
Thank you very much.