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Details
Link-It Detail - Disease - Freeman-Sheldon syndrome
Debug Stats
  • ### Total Build Time: 279 ms 16.105 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 1.691 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Freeman-Sheldon syndrome C0265224
Definition (1)
A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties.
Relationships (50)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 49


Relationships:
expanded_​form_​of : 1
manifestation_​of : 49
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_DISOmanifestation_ofimg 'Rocker bottom' feet C0240912
DISO_to_DISOmanifestation_ofimg 'Whistling' appearance C1848473
DISO_to_DISOmanifestation_ofimg Abnormally short neck C0521525
DISO_to_DISOmanifestation_ofimg Alae nasi hypoplastic C1837825
DISO_to_DISOmanifestation_ofimg Autosomal recessive form (277720) has also been described C2674001
DISO_to_DISOmanifestation_ofimg Blepharophimoses C0005744
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Breech Presentation C0006157
DISO_to_DISOmanifestation_ofimg Broad nasal bridge C1864688
DISO_to_DISOmanifestation_ofimg Caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (MYH3, 160720.0001). C2673999
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Congenital Camptodactyly C0685409
DISO_to_DISOmanifestation_ofimg Contracted toes C1860312
DISO_to_DISOmanifestation_ofimg Contracture, Hip C0019553
DISO_to_DISOmanifestation_ofimg Contractures of knees C1837263
DISO_to_DISOmanifestation_ofimg Cortical thumbs C1860311
DISO_to_DISOmanifestation_ofimg Deep set eyes C1860310
DISO_to_DISOmanifestation_ofimg Failure to thrive (infancy) C1867873
DISO_to_DISOmanifestation_ofimg Flat face C1853241
DISO_to_DISOexpanded_form_ofimg Freeman-Sheldon syndrome C0265224
DISO_to_DISOmanifestation_ofimg Full forehead C1856597
DISO_to_DISOmanifestation_ofimg H-shaped chin dimple C1860309
DISO_to_DISOmanifestation_ofimg HERNIA, INGUINAL C0019294
DISO_to_DISOmanifestation_ofimg Hip Contracture C0019553
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img GENERIF, Score=821, Pubmed Id: 16642020, UMLKSK CUI: C0265224
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265224Freeman-Sheldon syndrome0self