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General Information
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| Term |
rhizomelic chondrodysplasia punctata type 2 |
ID (Ontology) |
DOID:0110852 (Human Disease) |
| Definition |
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. |
| Also Known As |
"Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency" ; "DHAPAT deficiency" ; "Dihydroxyacetonephosphate Acyltransferase Deficiency" (for all, see Synonyms field below) |
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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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rhizomelic chondrodysplasia punctata type 2 | 1 | for disease ribbon | rhizomelic chondrodysplasia punctata type 2 | 1 | model of | rhizomelic chondrodysplasia punctata type 2 | 1 |
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Relationships