OBO ID: DOID:0070137 |
Term Name: | autosomal recessive cutis laxa type IIB | Search Ontology: | |
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Definition: | A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. https://www.ncbi.nlm.nih.gov/pubmed/19576563 | ||
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Ontology: | Human Disease ( DOID:0070137 ) |
OTHER autosomal recessive cutis laxa type IIB PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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pycr1acy51/cy51 (AB) | standard conditions | Liang et al., 2019 |
PHENOTYPE
No data available
CITATIONS (1)
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