Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614370
http://purl.bioontology.org/ontology/OMIM/614370
|
|---|---|
| Preferred Name | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 |
| Synonyms |
CSF2RB DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS 5
SMDP5
PAP DUE TO CSF2RB DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CSF2RB DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS 5
SMDP5
PAP DUE TO CSF2RB DEFICIENCY
|
|---|---|
| prefLabel | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
|
| Gene Symbol |
CSF2RB
SMDP5
|
| Scope Statement | Four unrelated infants with the disorder and decreased expression of CSF2RB in cells have been reported [MISCELLANEOUS]
Onset at age 36 years [MISCELLANEOUS]
Caused by mutation in the granulocyte-macrophage colony-stimulating factor receptor, beta (CSF2RB, 138981.0001) [MOLECULAR BASIS]
Two unrelated patients with pathogenic CSF2RB mutations have been reported (last curated December 2014) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 22q12.2-q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614370
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280574
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |