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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Branchial anomaly
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Accession:HP:0009794 term browser browse the term
Definition:Congenital developmental defect arising from the primitive branchial apparatus.
Comment:During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck.
Synonyms:exact_synonym: Abnormality of branchial apparatus;   Abnormality of branchial arch;   Branchial abnormality;   Branchial anomalies
 xref: UMLS:C1862066


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Branchial anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:107 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO ORPHA:107 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX5 SIX homeobox 5 IAGP HPO ORPHA:107 NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP HPO ORPHA:466950 NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
Branchial cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO PMID:19206155 MIM:113650 ORPHA:107 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO PMID:31949313 MIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO PMID:27804958 MIM:615583 ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO PMID:19206155 MIM:113650 MIM:608389 ORPHA:107 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX5 SIX homeobox 5 IAGP HPO ORPHA:107 NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252 		JBrowse link
Branchial fistula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO PMID:19206155 MIM:113650 MIM:602588 ORPHA:52429 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO PMID:27399968 MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO PMID:19206155 MIM:113650 ORPHA:52429 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
Branchial sinus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:107 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO PMID:32083401 MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO PMID:32083401 MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO ORPHA:107 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX5 SIX homeobox 5 IAGP HPO ORPHA:107 NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of head or neck 5998
        Abnormality of the neck 744
          Abnormal neck morphology 690
            Branchial anomaly 19
              Branchial cyst 6
              Branchial fistula 10
              Branchial sinus 5
paths to the root