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skeletal dysplasia-epilepsy-short stature syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:skeletal dysplasia-epilepsy-short stature syndrome
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Accession:EFO:MONDO:0011011 term browser browse the term
Definition:Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.
Synonyms:exact_synonym: Gurrieri-Sammito-Bellussi syndrome;   Orphanet:1858;   http://identifiers.org/medgen/208660;   http://identifiers.org/mesh/C537625;   http://identifiers.org/snomedct/715428003;   http://linkedlifedata.com/resource/umls/id/C0796046;   https://omim.org/entry/601187
 related_synonym: GURRIERI syndrome;   intellectual disability, epilepsy, short stature and skeletal dysplasia;   mental retardation, epilepsy, short stature and skeletal dysplasia
 alt_id: MONDO:0011011
 xref: GARD:350;   MEDGEN:208660;   MESH:C537625;   MIM:601187;   ORDO:1858;   SCTID:715428003;   UMLS:C0796046

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  experimental factor 0
    material property 0
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            skeletal dysplasia-epilepsy-short stature syndrome 0
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  experimental factor 0
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          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                skeletal dysplasia 0
                  skeletal dysplasia-epilepsy-short stature syndrome 0
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