loading...| Preferred Name |
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS |
|
| Synonyms |
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/265380 |
|
| altLabel |
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES ACDMPV |
|
| cui |
C0031190 |
|
| Gene Locus |
16q24 |
|
| Gene Symbol |
ACDMPV FOXF1 FKHL5 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU045616 http://purl.bioontology.org/ontology/OMIM/MTHU005288 http://purl.bioontology.org/ontology/OMIM/MTHU045622 http://purl.bioontology.org/ontology/OMIM/MTHU014357 http://purl.bioontology.org/ontology/OMIM/MTHU007610 http://purl.bioontology.org/ontology/OMIM/MTHU011853 http://purl.bioontology.org/ontology/OMIM/MTHU045618 http://purl.bioontology.org/ontology/OMIM/MTHU045620 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU045619 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU045621 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU045617 http://purl.bioontology.org/ontology/OMIM/MTHU045623 http://purl.bioontology.org/ontology/OMIM/MTHU013739 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
265380 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS |
|
| 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] |
|
| tui |
T047 |