OBO ID: DOID:0112190 |
Term Name: | distal arthrogryposis type 1C | Search Ontology: | |
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Definition: | A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/32707087/ | ||
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Ontology: | Human Disease ( DOID:0112190 ) |
OTHER distal arthrogryposis type 1C PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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