Phenotype Library | Search Phenotypes

Surfactant Metabolism Dysfunction, Pulmonary, 5 (MONDO:0013712)

Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.

Overview

Category

Ontology ID

Internal:14733

Synonyms

CSF2RB hereditary pulmonary alveolar proteinosis

hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB

surfactant metabolism dysfunction, pulmonary, 5

surfactant metabolism dysfunction, pulmonary, type 5

Csf2Rb deficiency

Pap due to Csf2Rb deficiency

SMDP5

pulmonary alveolar proteinosis 5

Mapped terms

GARD:0015793

MEDGEN:482204

OMIM:614370

UMLS:C3280574

Child terms

Unknown children.