Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Bulbar signs (HP:0002483)help
Term ID: 2483
Name: Bulbar signs
Synonym:
Definition:
Comments:
Reference: HP:0002483
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002483HP:0002483Bulbar signs0ATXN1 CL E G H631098755ORPHA17810548601556
HP:0002483HP:0002483Bulbar signs0ATXN1 CL E G H631098755ORPHA17610548601556
HP:0002483HP:0002483Bulbar signs0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0002483HP:0002483Bulbar signs0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0002483HP:0002483Bulbar signs0FIG4 CL E G H9896612577Amyotrophic lateral sclerosis type 11612577C2675491OMIM164916873609390
HP:0002483HP:0002483Bulbar signs0FIG4 CL E G H9896612577Amyotrophic lateral sclerosis type 11612577C2675491OMIM155816873609390
HP:0002483HP:0002483Bulbar signs0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM12694177606463
HP:0002483HP:0002483Bulbar signs0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM12614177606463
HP:0002483HP:0002483Bulbar signs0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM13164235137780
HP:0002483HP:0002483Bulbar signs0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM12844235137780
HP:0002483HP:0002483Bulbar signs0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12996912164015
HP:0002483HP:0002483Bulbar signs0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12496912164015
HP:0002483HP:0002483Bulbar signs0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0002483HP:0002483Bulbar signs0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002483HP:0002483Bulbar signs0ACTA1 CL E G H58171439ORPHA0362129102610
HP:0002483HP:0002483Bulbar signs0ACTA1 CL E G H58171439ORPHA0325129102610
HP:0002483HP:0002483Bulbar signs0ARSA CL E G H410309271ORPHA0841713607574
HP:0002483HP:0002483Bulbar signs0ARSA CL E G H410309271ORPHA0732713607574
HP:0002483HP:0002483Bulbar signs0KBTBD13 CL E G H390594171439ORPHA038837227613727
HP:0002483HP:0002483Bulbar signs0KBTBD13 CL E G H390594171439ORPHA031637227613727
HP:0002483HP:0002483Bulbar signs0KLHL41 CL E G H10324171439ORPHA019916905607701
HP:0002483HP:0002483Bulbar signs0KLHL41 CL E G H10324171439ORPHA015716905607701
HP:0002483HP:0002483Bulbar signs0MYPN CL E G H84665171439ORPHA0103323246608517
HP:0002483HP:0002483Bulbar signs0MYPN CL E G H84665171439ORPHA088723246608517
HP:0002483HP:0002483Bulbar signs0NEB CL E G H4703171439ORPHA053137720161650
HP:0002483HP:0002483Bulbar signs0NEB CL E G H4703171439ORPHA046747720161650
HP:0002483HP:0002483Bulbar signs0PLAA CL E G H9373521426ORPHA02229043603873
HP:0002483HP:0002483Bulbar signs0PLAA CL E G H9373521426ORPHA0969043603873
HP:0002483HP:0002483Bulbar signs0PSAP CL E G H5660309271ORPHA05029498176801
HP:0002483HP:0002483Bulbar signs0PSAP CL E G H5660309271ORPHA03909498176801
HP:0002483HP:0002483Bulbar signs0REEP1 CL E G H65055101011ORPHA034425786609139
HP:0002483HP:0002483Bulbar signs0REEP1 CL E G H65055101011ORPHA031525786609139
HP:0002483HP:0002483Bulbar signs0RYR1 CL E G H6261597ORPHA0460410483180901
HP:0002483HP:0002483Bulbar signs0RYR1 CL E G H6261597ORPHA0410110483180901
HP:0002483HP:0002483Bulbar signs0TPM2 CL E G H7169171439ORPHA024212011190990
HP:0002483HP:0002483Bulbar signs0TPM2 CL E G H7169171439ORPHA023412011190990
HP:0002483HP:0002483Bulbar signs0TPM3 CL E G H7170171439ORPHA028312012191030
HP:0002483HP:0002483Bulbar signs0TPM3 CL E G H7170171439ORPHA026112012191030


Genes (19) :ACTA1 ARSA ATXN1 CHMP2B FIG4 GBA GFAP KBTBD13 KLHL41 MATR3 MYPN NEB PLAA PSAP REEP1 RYR1 SPG11 TPM2 TPM3

Diseases (12) :171439 309271 98755 614696 612577 230900 203450 606070 521426 101011 597 602099
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.