OBO ID: DOID:0111876
Term Name: linear skin defects with multiple congenital anomalies 3 Search Ontology:
Synonyms:
  • linear skin defects with cardiomyopathy and other congenital anomalies
  • LSDMCA3
Definition: A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3. https://pubmed.ncbi.nlm.nih.gov/25772934/
References:
Ontology: Human Disease   (DOID:0111876)
OTHER linear skin defects with multiple congenital anomalies 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFB11 Linear skin defects with multiple congenital anomalies 3 300952
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None