Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/265120
http://purl.bioontology.org/ontology/OMIM/265120
|
|---|---|
| Preferred Name | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 |
| Synonyms |
INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1
SMDP1
INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1
SMDP1
INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY
|
|---|---|
| prefLabel | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
|
| Gene Symbol |
SFTPB
SMDP1
SFTB3
|
| Scope Statement | Occurs in full-term newborns [MISCELLANEOUS]
Incidence of 1 in 1.5 million births [MISCELLANEOUS]
Rapidly progressive [MISCELLANEOUS]
Caused by mutation in the pulmonary-associated surfactant protein B gene (SFTPB, 178640.0001) [MOLECULAR BASIS]
Onset in infancy (first hours to weeks of life) [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Minimal response to surfactant treatment [MISCELLANEOUS]
Death usually occurs in the first weeks to months of life [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 2p12-p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 265120
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1968602
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |