OBO ID: DOID:0050536
Term Name: obsolete SC phocomelia syndrome Search Ontology:
Synonyms:
  • Hypomelia Hypotrichosis Facial hemangioma syndrome
  • SC PSEUDOTHALIDOMIDE SYNDROME
Definition: A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. https://www.omim.org/entry/269000
References:
Ontology: Human Disease   ( DOID:0050536 )
Obsolete: true
Relationships
OTHER obsolete SC phocomelia syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None