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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:Bulbar palsy
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Accession:HP:0001283 term browser browse the term
Definition:Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Synonyms:exact_synonym: Bulbar muscle weakness;   Bulbar palsies;   Bulbar weakness
 alt_id: HP:0003441;   HP:0003709
 xref: MESH:D010244;   SNOMEDCT_US:398432008;   UMLS:C1301959;   UMLS:C4082299


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Bulbar palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO OMIM:300100 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:161800 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:313200 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARSA arylsulfatase A IAGP HPO OMIM:250100 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO OMIM:164400 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Bulbar palsy ClinVar PMID:10371528 PMID:12420090 PMID:19486177 PMID:20129625 PMID:20396531 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO OMIM:254210 ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO OMIM:615911 ORPHA:275872 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO OMIM:605809 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO OMIM:616720 ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G DES desmin IAGP HPO OMIM:601419 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO OMIM:603511 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DOK7 docking protein 7 IAGP HPO OMIM:254300 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:275872 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO OMIM:618940 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GSN gelsolin IAGP HPO OMIM:105120 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO OMIM:616165 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G MATR3 matrin 3 IAGP HPO OMIM:606070 ORPHA:600 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP HPO OMIM:619055 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO OMIM:617527 ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO OMIM:618197 ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP HPO OMIM:614707 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO OMIM:211500 OMIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO OMIM:617143 ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO OMIM:616437 ORPHA:275872 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO ORPHA:275872 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO OMIM:616439 ORPHA:275872 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO OMIM:619133 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254875 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO OMIM:255310 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP HPO OMIM:105500 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:275872 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the nervous system 15611
        Abnormal nervous system physiology 14502
          Bulbar palsy 43
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the musculoskeletal system 4447
        Abnormality of the musculature 3222
          Abnormal muscle physiology 2798
            Muscle weakness 1081
              Bulbar palsy 43
paths to the root