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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/265100
http://purl.bioontology.org/ontology/OMIM/265100
|
|---|---|
| Preferred Name | PULMONARY ALVEOLAR MICROLITHIASIS |
| Synonyms |
PULAM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PULAM
|
|---|---|
| prefLabel | PULMONARY ALVEOLAR MICROLITHIASIS
|
| Gene Symbol |
PULAM
SLC34A2
|
| Scope Statement | Variable age at onset (usually 20 to 30 years of age) [MISCELLANEOUS]
Slowly progressive [MISCELLANEOUS]
Caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (SLC34A2, 604217.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 4p15.31-p15.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 265100
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0155912
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |