OBO ID: DOID:0060768
Term Name: Smith-Magenis syndrome Search Ontology:
Synonyms:
  • 17p11.2 microdeletion syndrome
  • chromosome 17p11.2 deletion syndrome
Definition: A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (4)
References:
Ontology: Human Disease   ( DOID:0060768 )
Relationships
is a type of:
OTHER Smith-Magenis syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAI1 Smith-Magenis syndrome 182290
ZEBRAFISH MODELS
Fish Conditions Citations
mfap4.2imb5/imb5 standard conditions Ong et al., 2020
PHENOTYPE No data available

CITATIONS (1)
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