OBO ID: DOID:0112289 |
Term Name: | spondyloepiphyseal dysplasia tarda with characteristic facies | Search Ontology: | |
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Definition: | A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. https://pubmed.ncbi.nlm.nih.gov/8298734/ | ||
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Ontology: | Human Disease ( DOID:0112289 ) |
OTHER spondyloepiphyseal dysplasia tarda with characteristic facies PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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