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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Multiple morphological abnormalities of the flagella #9829

Closed MagoWyr closed 1 year ago

MagoWyr commented 1 year ago

Preferred term label: Multiple morphological abnormalities of the flagella (MMAF)

Synonyms

Definition (free text, please give PubMed ID) The recently coined phenotype “Multiple morphological abnormalities of the flagella” (“MMAF”) describes a combination of abnormal sperm motility and abnormal sperm morphology. It should only be used if the sperm are uniformly and specifically altered and show consistent immobility or decreased motility.

Parent term (use hpo.jax.org/app) HP:0012207, HP:0012868

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) ORPHA: 276234, ORPHA: 399813, ORPHA: 399808

Your nano-attribution (ORCID) 0000-0002-7651-2403

pnrobinson commented 1 year ago

@MagoWyr this is a so-called "bundled" observation that is closer to a disease description than an atomic phenotypic abnormality, which is the scope of the HPO. The way of coding this using HPO would be to code each of the anomalies separately.