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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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NTR, pulmo: Intra-alveolar accumulation of phospholipids #5567

Closed GrieseAG closed 4 years ago

GrieseAG commented 4 years ago

Preferred term label: Intra-alveolar accumulation of phospholipids

Synonyms Detection of PAS-positive extracellular material in broncho-alveolar lavage

Definition (free text, please give PubMed ID) In the space betweem alveolar macrophages, amorphous PAS-positive material, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.

(https://doi.org/10.1016/j.rmed.2011.08.018)

Parent term (use hpo.jax.org/app) Abnormal biochemical composition of broncho-alveolar fluid

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) OMIM: 610910, OMIM: 300770, OMIM: 614370

Gene association CSF2RA (OMIM: 306250), CSF2RB (OMIM: 138981 )

Your nano-attribution (ORCID)

GrieseAG commented 4 years ago

Comment: Ther periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP).

pnrobinson commented 4 years ago

term added

pnrobinson commented 4 years ago

@GrieseAG actually I wonder if this term isn't synonymous with the existing term Alveolar proteinosis https://hpo.jax.org/app/browse/term/HP:0006517

GrieseAG commented 4 years ago

Yes, based on the descpription of Alveolar proteinosis HP:0006517, it could work as a synonymous, at the beginning it seemed like a disease discription for me. Here, the desired term describes the possible result of BAL analysis. But our description could be merged to the already existing term, as well. Because the terms should be used for phenotypic abnormalities, I would prefer our suggested term label: Intra-alveolar accumulation of phospholipids

pnrobinson commented 4 years ago

I have merged these terms!