Search Ontology:
Human Disease

chromosome 1p36 deletion syndrome

Term ID
DOID:0060410
Synonyms
  • 1p36 deletion syndrome
  • deletion 1p36
  • monosomy 1p36
  • subtelomeric 1p36 deletion
Definition
A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome
References
Ontology
Human Disease   ( DOID:0060410 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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