OBO ID: DOID:0080352
Term Name: X-linked chondrodysplasia punctata 2 Search Ontology:
Synonyms:
  • Conradi-Hunermann Syndrome
  • Happle syndrome
Definition: A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2
References:
Ontology: Human Disease   ( DOID:0080352 )
OTHER X-linked chondrodysplasia punctata 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EBP Chondrodysplasia punctata, X-linked dominant 302960
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None