OBO ID: DOID:0110852 |
Term Name: | rhizomelic chondrodysplasia punctata type 2 | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/1405476 | ||
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Ontology: | Human Disease ( DOID:0110852 ) |
OTHER rhizomelic chondrodysplasia punctata type 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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