Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Pointed chin
go back to main search page
Accession:HP:0000307 term browser browse the term
Definition:A marked tapering of the lower face to the chin.
Comment:The two rami of the mandible meet at an acute angle.
Synonyms:exact_synonym: Pointed mention region;   Pointy chin;   Small pointed chin;   Witch's chin
 alt_id: HP:0005330
 xref: UMLS:C1844505


show annotations for term's descendants       view all columns           Sort by:
 
Pointed chin term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 9 130,713,881 130,887,675 RGD:8699517
G ACTB actin beta JBrowse link 7 5,527,148 5,530,601 RGD:8699517
G ACTG1 actin gamma 1 JBrowse link 17 81,509,971 81,512,799 RGD:8699517
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,267,619 89,490,561 RGD:8699517
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 15 50,908,569 51,005,900 RGD:8699517
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 JBrowse link 22 17,592,136 17,628,822 RGD:8699517
G BAZ1B bromodomain adjacent to zinc finger domain 1B JBrowse link 7 73,440,406 73,522,293 RGD:8699517
G BCR BCR activator of RhoGEF and GTPase JBrowse link 22 23,180,509 23,318,037 RGD:8699517
G CAMTA1 calmodulin binding transcription activator 1 JBrowse link 1 6,785,324 7,769,706 RGD:8699517
G CCDC8 coiled-coil domain containing 8 JBrowse link 19 46,410,329 46,413,564 RGD:8699517
G CDH11 cadherin 11 JBrowse link 16 64,943,753 65,126,112 RGD:8699517
G CDK10 cyclin dependent kinase 10 JBrowse link 16 89,686,612 89,696,354 RGD:8699517
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 JBrowse link 13 114,314,503 114,327,322 RGD:8699517
G CHD1 chromodomain helicase DNA binding protein 1 JBrowse link 5 98,855,204 98,929,772 RGD:8699517
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 14 21,385,199 21,456,123 RGD:8699517
G CHRNG cholinergic receptor nicotinic gamma subunit JBrowse link 2 232,539,692 232,548,115 RGD:8699517
G CLIP2 CAP-Gly domain containing linker protein 2 JBrowse link 7 74,289,407 74,405,943 RGD:8699517
G CRKL CRK like proto-oncogene, adaptor protein JBrowse link 22 20,917,407 20,953,747 RGD:8699517
G CUL7 cullin 7 JBrowse link 6 43,037,617 43,053,945 RGD:8699517
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8699517
G DOCK3 dedicator of cytokinesis 3 JBrowse link 3 50,674,927 51,384,198 RGD:8699517
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:8699517
G FGF3 fibroblast growth factor 3 JBrowse link 11 69,809,968 69,819,416 RGD:8699517
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8699517
G GABRD gamma-aminobutyric acid type A receptor delta subunit JBrowse link 1 2,019,345 2,030,758 RGD:8699517
G GTF2I general transcription factor IIi JBrowse link 7 74,657,665 74,760,692 RGD:8699517
G GTF2IRD1 GTF2I repeat domain containing 1 JBrowse link 7 74,453,906 74,603,070 RGD:8699517
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 532,242 535,576 RGD:8699517
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 53,532,096 53,686,723 RGD:8699517
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 1 5,992,639 6,101,186 RGD:8699517
G KIF11 kinesin family member 11 JBrowse link 10 92,593,130 92,655,395 RGD:8699517
G KIFBP kinesin family binding protein JBrowse link 10 68,988,803 69,016,982 RGD:8699517
G LIMK1 LIM domain kinase 1 JBrowse link 7 74,083,804 74,122,525 RGD:8699517
G MAN1B1 mannosidase alpha class 1B member 1 JBrowse link 9 137,086,941 137,109,183 RGD:8699517
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 90,513,579 90,587,072 RGD:8699517
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 22 21,759,657 21,867,680 RGD:8699517
G MEIS2 Meis homeobox 2 JBrowse link 15 36,889,204 37,101,311 RGD:8699517
G NFIX nuclear factor I X JBrowse link 19 12,995,475 13,098,796 RGD:8699517
G NOTCH2 notch receptor 2 JBrowse link 1 119,911,553 120,069,703 RGD:8699517
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:8699517
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 2 219,549,408 219,571,573 RGD:8699517
G PDGFRB platelet derived growth factor receptor beta JBrowse link 5 150,113,839 150,155,845 RGD:8699517
G PLK4 polo like kinase 4 JBrowse link 4 127,880,893 127,899,224 RGD:8699517
G POC1A POC1 centriolar protein A JBrowse link 3 52,075,226 52,154,423 RGD:8699517
G POGZ pogo transposable element derived with ZNF domain JBrowse link 1 151,402,724 151,459,494 RGD:8699517
G POLR3A RNA polymerase III subunit A JBrowse link 10 77,975,149 78,029,515 RGD:8699517
G PORCN porcupine O-acyltransferase JBrowse link X 48,508,992 48,520,814 RGD:8699517
G PRDM16 PR/SET domain 16 JBrowse link 1 3,069,203 3,438,621 RGD:8699517
G RERE arginine-glutamic acid dipeptide repeats JBrowse link 1 8,352,404 8,817,640 RGD:8699517
G RFC2 replication factor C subunit 2 JBrowse link 7 74,231,502 74,254,458 RGD:8699517
G SETBP1 SET binding protein 1 JBrowse link 18 44,680,072 45,068,510 RGD:8699517
G SETD2 SET domain containing 2, histone lysine methyltransferase JBrowse link 3 47,016,408 47,164,113 RGD:8699517
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 22 50,674,391 50,733,212 RGD:8699517
G SKI SKI proto-oncogene JBrowse link 1 2,228,319 2,310,213 RGD:8699517
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 71,366,220 71,530,525 RGD:8699517
G TBC1D7 TBC1 domain family member 7 JBrowse link 6 13,304,951 13,328,583 RGD:8699517
G TBL2 transducin beta like 2 JBrowse link 7 73,567,537 73,578,605 RGD:8699517
G TMEM94 transmembrane protein 94 JBrowse link 17 75,441,159 75,500,452 RGD:8699517
G TUBGCP4 tubulin gamma complex associated protein 4 JBrowse link 15 43,371,073 43,409,771 RGD:8699517
G TUBGCP6 tubulin gamma complex associated protein 6 JBrowse link 22 50,217,694 50,245,028 RGD:8699517
G YY1 YY1 transcription factor JBrowse link 14 100,239,144 100,282,788 RGD:8699517
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2 144,384,081 144,520,119 RGD:8699517
G ZNF148 zinc finger protein 148 JBrowse link 3 125,225,669 125,375,354 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5899
    Phenotypic abnormality 5895
      Abnormality of head or neck 2579
        Abnormality of the head 2562
          Abnormality of the face 2329
            Abnormality of the chin 223
              Pointed chin 63
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.