ONTOLOGY REPORT - ANNOTATIONS


Term:Prader-Willi-Like Syndrome
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Accession:DOID:9001635 term browser browse the term
Definition:SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene. SHFYNG is caused by heterozygous mutation in the MAGEL2 gene on chromosome 15q11. (OMIM)
Synonyms:exact_synonym: PWLS;   SCHAAF-YANG SYNDROME;   SHFYNG
 primary_id: OMIM:615547;   RDO:9000991
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Prader-Willi-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558012
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:7240710
RGD:8554872
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872

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  disease 14875
    syndrome 4220
      Prader-Willi-Like Syndrome 3
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Prader-Willi syndrome 17
                      Prader-Willi-Like Syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.