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Details
Link-It Detail - Human Phenotype - Abnormality of the chin
Debug Stats
  • ### Total Build Time: 33 ms 29.086 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 198 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 324 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=5 ms Completed: 5 ms rowSize= 444 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 2.613 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.159 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 23.208 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.018 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the chin HP:0000306
Definition (1)
An abnormality of the `chin` (FMA:46495), i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.
Parents (1)
img Abnormality of the face HP:0000271
Children (8)
img Small chin HP:0000331
img Mandibular prognathia HP:0000303
img Broad chin HP:0011822
img Chin with horizontal crease HP:0011823
img Chin with H-shaped crease HP:0011824
img Pointed chin HP:0000307
img Cleft of chin HP:0011323
img Chin dimple HP:0010751
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the face HP:0000271
Genes (139)

Species:
human : 139
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanMRT5100188831mental retardation, non-syndromic, autosomal recessive, 5
img HP RolledUp, OMIM ID: 611091
HumanPTLS100038247Potocki-Lupski syndrome
img HP RolledUp, OMIM ID: 610883
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
img HP RolledUp, OMIM ID: 227260
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanGORAB92344golgin, RAB6-interacting
img HP RolledUp, OMIM ID: 231070
HumanTUBGCP685378tubulin, gamma complex associated protein 6
img HP RolledUp, OMIM ID: 251270
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
img HP RolledUp, OMIM ID: 606232
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
HumanCCDC883987coiled-coil domain containing 8
img HP RolledUp, OMIM ID: 614205
HumanITCH83737itchy E3 ubiquitin protein ligase
img HP RolledUp, OMIM ID: 613385
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img HP RolledUp, OMIM ID: 610253
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252600
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img HP RolledUp, OMIM ID: 300676
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
img HP RolledUp, OMIM ID: 218400
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000306Abnormality of the chin0self