Search Ontology:
Human Disease

linear skin defects with multiple congenital anomalies 1

Term ID
DOID:0111808
Synonyms
  • MCOPS7
  • Microphthalmia with linear skin defect syndrome
  • microphthalmia-dermal aplasia-sclerocornea syndrome
  • MIDAS syndrome
  • syndromic microphthalmia 7
  • syndromic microphthalmia type 7
Definition
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. https://www.ncbi.nlm.nih.gov/pubmed/17033964
References
Ontology
Human Disease   ( DOID:0111808 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models