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Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Paroxysmal Extreme Pain Disorder #3987

Closed andrewdevereau closed 5 years ago

andrewdevereau commented 6 years ago

submitted on behalf of David Bennett, Professor of neurology and neurobiology, Nuffield department of clinical neurosciences, Uni. of Oxford

For new term requests, please provide us with the following information:

1. Preferred term label

Paroxysmal extreme pain disorder

2. Synonyms

3. Textual definition (should be understandable even for non-specialists, please include a PubMed ID for relevant articles providing additional information about the suggestion)

Paroxysmal extreme pain disorder (formerly known as familial rectal pain) is characterised by paroxysmal episodes of severe perineal and rectal, ocular, and mandibular pain. Pain is associated with autonomic features that can include flushing (which sometimes results in harlequin colour change), lacrimation, rhinorrhoea, and tonic attacks with apnoea and bradycardia. PMID: 17679678 PMID: 24813307

4. Parent term (use HPO Browser or OLS)

Chronic pain HP:0012532

5. Which diseases are characterized by this term ? (e.g. Orphanet- or OMIM-id)

Paroxysmal Extreme Pain Disorder OMIM: 167400

6. Your nano-attribution (ORCID-id or label, e.g. HPO:probinson (organization:name))

https://orcid.org/0000-0002-1089-1543

pnrobinson commented 5 years ago

This is also a disease entity and not a phenotypic feature. I am adding a term for the primary phenotypic feature of this disease, Paroxysmal rectal pain (HP:0032150)