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Details
Link-It Detail - Human Phenotype - Abnormality of the nasal root
Debug Stats
  • ### Total Build Time: 24 ms 25.505 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 204 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 203 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
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 779 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.058 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.093 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 19.864 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the nasal root HP:0000423
Definition (1)
An abnormality of the `root of nose` (FMA:59516).
Namespace (1)
medical_genetics
Parents (2)
img Abnormality of the external nose HP:0010938
img Abnormality of the nose HP:0000366
Children (3)
img Broad nasal root HP:0000424
img Narrow nasal root HP:0100782
img Prominent nasal root HP:0000432
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the external nose HP:0010938
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the nose HP:0000366
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanARX170302aristaless related homeobox
img HP RolledUp, OMIM ID: 300215
HumanSOST50964sclerostin
img HP RolledUp, OMIM ID: 269500
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img HP RolledUp, OMIM ID: 218000
HumanSNAP299342synaptosomal-associated protein, 29kDa
img HP RolledUp, OMIM ID: 609528
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img HP RolledUp, OMIM ID: 608233
HumanKMT2D8085lysine (K)-specific methyltransferase 2D
img HP RolledUp, OMIM ID: 147920
HumanKDM6A7403lysine (K)-specific demethylase 6A
img HP RolledUp, OMIM ID: 147920
HumanTPM27169tropomyosin 2 (beta)
img HP RolledUp, OMIM ID: 601680
HumanTNNT37140troponin T type 3 (skeletal, fast)
img HP RolledUp, OMIM ID: 601680
HumanTNNI27136troponin I type 2 (skeletal, fast)
img HP RolledUp, OMIM ID: 601680
HumanRIEG26012Rieger syndrome 2
img HP RolledUp, OMIM ID: 601499
HumanPTCH15727patched 1
img HP RolledUp, OMIM ID: 109400
HumanPCNT5116pericentrin
img HP RolledUp, OMIM ID: 210720
HumanPAX35077paired box 3
img HP RolledUp, OMIM ID: 148820
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img HP RolledUp, OMIM ID: 601680
HumanSMAD44089SMAD family member 4
img HP RolledUp, OMIM ID: 139210
HumanGLI32737GLI family zinc finger 3
img HP RolledUp, OMIM ID: 175700
HumanFLNB2317filamin B, beta
img HP RolledUp, OMIM ID: 112310
HumanFLNA2316filamin A, alpha
img HP RolledUp, OMIM ID: 311300
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img HP RolledUp, OMIM ID: 214150
HumanERCC52073excision repair cross-complementing rodent repair deficiency, complementation group 5
img HP RolledUp, OMIM ID: 214150
HumanEFNB11947ephrin-B1
img HP RolledUp, OMIM ID: 304110
HumanALX3257ALX homeobox 3
img HP RolledUp, OMIM ID: 136760
HumanACY195aminoacylase 1
img HP RolledUp, OMIM ID: 609924
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000423Abnormality of the nasal root0self