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Details
Link-It Detail - Human Phenotype - Abnormality of the maxilla
Debug Stats
  • ### Total Build Time: 24 ms 31.852 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 214 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=0 Completed: 0 ms rowSize= 1.081 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 2.035 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.951 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 23.214 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the maxilla HP:0000326
Definition (1)
An abnormality of the `Maxilla` (FMA:9711) (upper jaw bone).
Parents (3)
img Abnormality of facial skeleton HP:0011821
img Abnormality of the midface HP:0000309
img Abnormality of the jaws HP:0000209
Children (6)
img Hyperplasia of the maxilla HP:0010279
img Aplasia/Hypoplasia of the maxilla HP:0009117
img Asymmetry of the maxilla HP:0010755
img Narrow maxilla HP:0002010
img Fibrous syngnathia HP:0009754
img Abnormality of the premaxilla HP:0010758
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of facial skeleton HP:0011821
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of facial skeleton HP:0011821
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the midface HP:0000309
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the jaws HP:0000209
Genes (61)

Species:
human : 61
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanSHFM3100049542Split-hand/foot malformation 3
img HP RolledUp, OMIM ID: 246560
HumanHFM170474Hemifacial microsomia
img HP RolledUp, OMIM ID: 164210
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanSTRADA92335STE20-related kinase adaptor alpha
img HP RolledUp, OMIM ID: 611087
HumanSCARF291179scavenger receptor class F, member 2
img HP RolledUp, OMIM ID: 600920
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanCDT181620chromatin licensing and DNA replication factor 1
img HP RolledUp, OMIM ID: 613804
HumanCOLEC1178989collectin sub-family member 11
img HP RolledUp, OMIM ID: 265050
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img HP RolledUp, OMIM ID: 300676
HumanSPG1657760spastic paraplegia 16 (complicated, X-linked recessive)
img HP RolledUp, OMIM ID: 300266
HumanRIPK454101receptor-interacting serine-threonine kinase 4
img HP RolledUp, OMIM ID: 263650
HumanRAB2351715RAB23, member RAS oncogene family
img HP RolledUp, OMIM ID: 201000
HumanEFEMP230008EGF containing fibulin-like extracellular matrix protein 2
img HP RolledUp, OMIM ID: 614437
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img HP RolledUp, OMIM ID: 212720
HumanORC623594origin recognition complex, subunit 6
img HP RolledUp, OMIM ID: 613803
HumanSPG2023111spastic paraplegia 20 (Troyer syndrome)
img HP RolledUp, OMIM ID: 275900
HumanSTAMBP10617STAM binding protein
img HP RolledUp, OMIM ID: 614261
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img HP RolledUp, OMIM ID: 218000
HumanMED129968mediator complex subunit 12
img HP RolledUp, OMIM ID: 309520
HumanMAFB9935v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
img HP RolledUp, OMIM ID: 166300
HumanTP638626tumor protein p63
img HP RolledUp, OMIM ID: 106260
img HP RolledUp, OMIM ID: 129400
img HP RolledUp, OMIM ID: 604292
HumanKDM5C8242lysine (K)-specific demethylase 5C
img HP RolledUp, OMIM ID: 300534
HumanUBE3A7337ubiquitin protein ligase E3A
img HP RolledUp, OMIM ID: 105830
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img HP RolledUp, OMIM ID: 101400
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000326Abnormality of the maxilla0self