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General Information
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| Term |
schneckenbecken dysplasia |
ID (Ontology) |
DOID:0050775 (Human Disease) |
| Definition |
An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. |
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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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No relevant records available
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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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| Genes |
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schneckenbecken dysplasia | 1 | for disease ribbon | schneckenbecken dysplasia | 1 | model of | schneckenbecken dysplasia | 1 |
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Relationships