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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/265380
http://purl.bioontology.org/ontology/OMIM/265380
|
|---|---|
| Preferred Name | ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS |
| Synonyms |
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES
ACDMPV
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES
ACDMPV
|
|---|---|
| prefLabel | ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
|
| Gene Symbol |
ACDMPV
FOXF1
FKHL5
|
| Scope Statement | Caused by mutation in the forkhead box F1 gene (FOXF1, 601089.0001) [MOLECULAR BASIS]
Lethal in the neonatal period [MISCELLANEOUS]
Features other than ACD/MPV are variably present [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 265380
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0031190
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |