loading...| Preferred Name |
anencephaly 1 |
|
| Synonyms |
anencephaly 1 isolated anencephaly/exencephaly ANPH anencephaly absence of a large part of the brain and the skull |
|
| Definitions |
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008791 |
|
| has_broad_synonym |
ANPH anencephaly |
|
| has_exact_synonym |
anencephaly 1 isolated anencephaly/exencephaly |
|
| has_related_synonym |
absence of a large part of the brain and the skull |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/3684 https://github.com/monarch-initiative/mondo/issues/4616 |
|
| label |
anencephaly 1 |
|
| prefixIRI |
MONDO:0008791 |
|
| prefLabel |
anencephaly 1 |
|
| textual definition |
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0008791 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008791 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008791 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008791 | MONDO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/206500 | OMIM | LOOM |