|OBO ID: DOID:2120|
|Term Name:||focal dermal hypoplasia||Search Ontology:|
|Definition:||A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. https://rarediseases.info.nih.gov/diseases/6457/disease|
|Ontology:||Human Disease (DOID:2120)|
|is a type of:||
OTHER focal dermal hypoplasia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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