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Details
Link-It Detail - Disease - Orofaciodigital Syndromes
Debug Stats
  • ### Total Build Time: 118 ms 21.956 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 436 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=46 ms Completed: 46 ms rowSize= 8.083 KB
  • CONCEPT_RELATIONSHIPS gt=43 ms Completed: 43 ms rowSize= 7.830 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.069 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Orofaciodigital Syndromes C0029294
Definition (1)
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Craniofacial Abnormalities C0376634
img Dysostoses C0013393
img Sex Chromosome Disorders C0949683
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dysostoses C0013393
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Sex Chromosome Disorders C0949683
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Sex Chromosome Disorders C0949683
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (18)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 15
diso_​to_​phen : 2


Relationships:
none : 5
mapped_​to : 12
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_CHEM7img Proteins C0033684
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISOmapped_toimg BARAITSER-BURN SYNDROME C0406727
DISO_to_DISOmapped_toimg BRACHYDACTYLY WITH MAJOR PROXIMAL PHALANGEAL SHORTENING C0406726
DISO_to_DISOmapped_toimg CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY C0796099
DISO_to_DISOmapped_toimg GABRIELLI SYNDROME C2752048
DISO_to_DISOmapped_toimg OFD5 C1868118
DISO_to_DISOmapped_toimg OFD8 C0796101
DISO_to_DISOmapped_toimg OFD9 C0796102
DISO_to_DISOmapped_toimg OROFACIODIGITAL SYNDROME VI C2745997
DISO_to_DISOmapped_toimg Oral-facial-digital syndrome, type 1 C2931426
DISO_to_DISOmapped_toimg Oral-facial-digital syndrome, type 2 C2931889
DISO_to_DISOmapped_toimg Orofaciodigital Syndrome 12 C2932679
DISO_to_DISOmapped_toimg Orofaciodigital Syndrome 13 C2932680
DISO_to_DISOpermuted_term_ofimg Orofaciodigital Syndromes C0029294
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=882, UMLKSK CUI: C0029294
img GENERIF, Score=913, Pubmed Id: 18177199, UMLKSK CUI: C0029294
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029294Orofaciodigital Syndromes0self