Search Ontology:
Human Disease

Fontaine progeroid syndrome

Term ID
DOID:0051067
Synonyms
  • Gorlin-Chaudhry-Moss syndrome
  • Progeroid Syndrome, Congenital, Petty Type
Definition
A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36. (2)
References
Ontology
Human Disease   ( DOID:0051067 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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