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Details
Link-It Detail - Human Phenotype - Abnormality of facial musculature
Debug Stats
  • ### Total Build Time: 27 ms 32.139 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 208 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.088 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.009 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.958 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 23.709 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of facial musculature HP:0000301
Parents (3)
img Abnormality of the face HP:0000271
img Abnormality of the musculature HP:0003011
img Abnormality of facial soft tissue HP:0011799
Children (6)
img Facial hypotonia HP:0000297
img Spasticity of facial muscles HP:0002491
img hypoplasia of facial musculature HP:0004660
img Facial palsy HP:0010628
img Facial myokymia HP:0000317
img Hypomimic face HP:0000338
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the face HP:0000271
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the musculature HP:0003011
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the musculature HP:0003011
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of facial soft tissue HP:0011799
Genes (117)

Species:
human : 117
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanCFTDX100188765Myopathy, congenital, with fiber-type disproportion, X-linked
img HP RolledUp, OMIM ID: 300580
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
img HP RolledUp, OMIM ID: 609456
HumanAGRN375790agrin
img HP RolledUp, OMIM ID: 254300
HumanSCA25338435spinocerebellar ataxia 25
img HP RolledUp, OMIM ID: 608703
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 254300
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
HumanHFM170474Hemifacial microsomia
img HP RolledUp, OMIM ID: 164210
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
img HP RolledUp, OMIM ID: 211500
HumanMGME192667mitochondrial genome maintenance exonuclease 1
img HP RolledUp, OMIM ID: 615084
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 613559
HumanMEGF1084466multiple EGF-like-domains 10
img HP RolledUp, OMIM ID: 614399
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img HP RolledUp, OMIM ID: 601596
HumanSLC52A279581solute carrier family 52 (riboflavin transporter), member 2
img HP RolledUp, OMIM ID: 614707
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 606612
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
img HP RolledUp, OMIM ID: 218400
HumanMTMR1464419myotubularin related protein 14
img HP RolledUp, OMIM ID: 160150
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img HP RolledUp, OMIM ID: 186580
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 181405
HumanMRXSL57790Lubs X-linked mental retardation syndrome
img HP RolledUp, OMIM ID: 300260
HumanSPG1657760spastic paraplegia 16 (complicated, X-linked recessive)
img HP RolledUp, OMIM ID: 300266
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
img HP RolledUp, OMIM ID: 606353
img HP RolledUp, OMIM ID: 205100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000301Abnormality of facial musculature0self