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General Information
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| Term |
Sandestig-Stefanova syndrome |
ID (Ontology) |
DOID:0081272 (Human Disease) |
| Definition |
A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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Sandestig-Stefanova syndrome | 2 | 1 | 1 | for disease ribbon | Sandestig-Stefanova syndrome | -- | 1 | -- | model of | Sandestig-Stefanova syndrome | 2 | 1 | -- |
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Relationships