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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: lack of surfactant-protein B (SP-B) #5565

Closed GrieseAG closed 4 years ago

GrieseAG commented 4 years ago

Preferred term label: lack of dimeric surfactant-protein B (SP-B)

Synonyms

Definition (free text, please give PubMed ID) Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-B may result of surfactant metabolism dysfunction.

PMID: 26375475

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: 265120, OMIM: 267450

Your nano-attribution (ORCID) crapp, @mgriese, @katrinknoflach

pnrobinson commented 4 years ago

Label -- Absent dimeric surfactant-protein B in bronchoalveolar lavage

pnrobinson commented 4 years ago

adding as HP:0032981