Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0035448> ?p ?o ?g. }
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- MONDO_0035448 IAO_0000115 "OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]" @default.
- MONDO_0035448 IAO_0000231 OMO_0001000 @default.
- MONDO_0035448 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4776" @default.
- MONDO_0035448 normalizedInformationContent "100" @default.
- MONDO_0035448 referenceCount "1" @default.
- MONDO_0035448 hasDbXref "GARD:22279" @default.
- MONDO_0035448 hasDbXref "Orphanet:566847" @default.
- MONDO_0035448 id "MONDO:0035448" @default.
- MONDO_0035448 inSubset gard_rare @default.
- MONDO_0035448 inSubset nord_rare @default.
- MONDO_0035448 inSubset rare @default.
- MONDO_0035448 type Class @default.
- MONDO_0035448 isDefinedBy mondo.owl @default.
- MONDO_0035448 label "obsolete aprosencephaly/atelencephaly spectrum" @default.
- MONDO_0035448 subClassOf MONDO_0035448 @default.
- MONDO_0035448 subClassOf Thing @default.
- MONDO_0035448 deprecated "true" @default.
- MONDO_0035448 exactMatch Orphanet_566847 @default.