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Details
Link-It Detail - Human Phenotype - Abnormality of facial skeleton
Debug Stats
  • ### Total Build Time: 243 ms 27.200 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 205 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 337 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.718 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.086 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=234 ms Completed: 234 ms rowSize= 21.264 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.024 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of facial skeleton HP:0011821
Definition (1)
The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.
Parents (1)
img Abnormality of the skull HP:0000929
Children (5)
img Hypoplastic facial bones HP:0002692
img Facial hyperostosis HP:0005465
img Abnormality of the sinuses HP:0000245
img Abnormality of the mandible HP:0000277
img Abnormality of the maxilla HP:0000326
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the skull HP:0000929
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the skull HP:0000929
Genes (497)

Species:
human : 497
Page Size
Current 25
  Page 1 of 20
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
img HP RolledUp, OMIM ID: 614541
HumanCATMANS100862706Catel-Manzke syndrome
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanTRIP4Q32.1Q32.2100529228
img HP RolledUp, OMIM ID: 613603
HumanDUP17Q21.31100529226
img HP RolledUp, OMIM ID: 613533
HumanDER22T11-22100529146
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
HumanOCLN100506658occludin
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanARCODS100381211Ariculocondylar syndrome
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011821Abnormality of facial skeleton0self