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NTR Finngen traits #2284

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ireneisdoomed opened this issue Sep 16, 2024 · 1 comment
Closed

NTR Finngen traits #2284

ireneisdoomed opened this issue Sep 16, 2024 · 1 comment
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@ireneisdoomed
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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.

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. perinatal disease (EFO_0010238) Finngen R11

ORCID id: https://orcid.org/0000-0002-2417-7324

Thank you very much.

@zoependlington
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Added terms as IDs EFO_0022847 to EFO_0022856 respectively. They will be available after the October (15th) release.

zoependlington added a commit that referenced this issue Oct 14, 2024
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