Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the face (HP:0000271)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of the nose (HP:0000366)help
..Starting node
..expand
Abnormality of the sense of smell (HP:0004408)help
Term ID: 4408
Name: Abnormality of the sense of smell
Synonym: Abnormal sense of smell; Abnormality of olfaction; Abnormality of the sense of smell; Smell defect
Definition: An anomaly in the ability to perceive and distinguish scents (odors).
Comments:
Reference: HP:0004408
Genes and Diseases:
 
       Child Nodes:
........expandAnosmia (HP:0000458) help
................... HP:0010632 Total anosmia
................... HP:0010633 Partial anosmia
................... HP:0012247 Specific anosmia
........expandHyposmia (HP:0004409) help
................... HP:0010634 Total hyposmia
................... HP:0010635 Partial hyposmia

 Sister Nodes: 
..expandAbnormal nasal base (HP:0012808) help
..expandAbnormal nasal bridge morphology (HP:0000422) help
..expandAbnormal nasal morphology (HP:0005105) help
..expandAbnormal nasal mucosa morphology (HP:0000433) help
..expandAbnormal nasopharynx morphology (HP:0001739) help
..expandAbnormality of nasal hair (HP:0040057) help
..expandAbnormality of nasalis muscle (HP:3000009) help
..expandAbnormality of procerus muscle (HP:3000014) help
..expandAbnormality of the choanae (HP:0000415) help
..expandAbnormality of the external nose (HP:0010938) help
..expandAbnormality of the nares (HP:0005288) help
..expandAbnormality of the nasal cavity (HP:0010640) help
..expandAbnormality of the nasal septum (HP:0000419) help
..expandAbnormality of the nasal skeleton (HP:0010937) help
..expandAbnormality of the nasolabial region (HP:0005289) help
..expandEpistaxis (HP:0000421) help
..expandNasal congestion (HP:0001742) help
..expandRhinitis (HP:0012384) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004408HP:0004408Abnormality of the sense of smell0ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0004408Abnormality of the sense of smell0ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0004408Abnormality of the sense of smell0HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0004408Abnormality of the sense of smell0HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0004408Abnormality of the sense of smell0KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0004408Abnormality of the sense of smell0KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0000458Anosmia1ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0004409Hyposmia1ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0033693Phantosmia1ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0004409Hyposmia1ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0033693Phantosmia1ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0000458Anosmia1ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0034004Parosmia1ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0034004Parosmia1ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0034004Parosmia1HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0004409Hyposmia1HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0033693Phantosmia1HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0000458Anosmia1HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0004409Hyposmia1HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0033693Phantosmia1HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0000458Anosmia1HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0034004Parosmia1HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0000458Anosmia1KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0004409Hyposmia1KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0033693Phantosmia1KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0034004Parosmia1KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0034004Parosmia1KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0000458Anosmia1KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0004409Hyposmia1KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0033693Phantosmia1KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0012247Specific anosmia2ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0010634Total hyposmia2ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0012247Specific anosmia2ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0010634Total hyposmia2ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0011161Focal sensory seizure with olfactory features2ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0010633Partial anosmia2ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0010632Total anosmia2ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0010635Partial hyposmia2ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0010633Partial anosmia2ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0010632Total anosmia2ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0010635Partial hyposmia2ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0011161Focal sensory seizure with olfactory features2ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0010635Partial hyposmia2HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0011161Focal sensory seizure with olfactory features2HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0010633Partial anosmia2HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0010632Total anosmia2HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0010634Total hyposmia2HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0012247Specific anosmia2HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0010634Total hyposmia2HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0012247Specific anosmia2HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0010632Total anosmia2HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0010635Partial hyposmia2HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0011161Focal sensory seizure with olfactory features2HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0010633Partial anosmia2HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0012247Specific anosmia2KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0010634Total hyposmia2KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0011161Focal sensory seizure with olfactory features2KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0010633Partial anosmia2KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0010632Total anosmia2KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0010635Partial hyposmia2KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0011161Focal sensory seizure with olfactory features2KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0010633Partial anosmia2KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0010632Total anosmia2KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0010635Partial hyposmia2KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0012247Specific anosmia2KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0010634Total hyposmia2KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3ATP7A CL E G H538198ORPHA11003869300011
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3ATP7A CL E G H538198ORPHA1897869300011
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3KIF7 CL E G H3746542189ORPHA181330497611254
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3KIF7 CL E G H3746542189ORPHA154030497611254
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3KIF7 CL E G H3746542189ORPHA181330497611254
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004408HP:0004408Abnormality of the sense of smell0FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0004408Abnormality of the sense of smell0FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0004408Abnormality of the sense of smell0PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0004408Abnormality of the sense of smell0PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0004408Abnormality of the sense of smell0PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0004408Abnormality of the sense of smell0PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0004408Abnormality of the sense of smell0PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0004408Abnormality of the sense of smell0PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0004408Abnormality of the sense of smell0PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0004408Abnormality of the sense of smell0PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0004408Abnormality of the sense of smell0REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0004408Abnormality of the sense of smell0SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0004408Abnormality of the sense of smell0SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0004408Abnormality of the sense of smell0SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0004408Abnormality of the sense of smell0SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0034004Parosmia1FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0033693Phantosmia1FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0000458Anosmia1FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0004409Hyposmia1FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0033693Phantosmia1FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0000458Anosmia1FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0004409Hyposmia1FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0034004Parosmia1FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0004409Hyposmia1PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0033693Phantosmia1PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0000458Anosmia1PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0034004Parosmia1PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0034004Parosmia1PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0004409Hyposmia1PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0033693Phantosmia1PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0000458Anosmia1PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0004409Hyposmia1PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0033693Phantosmia1PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0000458Anosmia1PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0004409Hyposmia1PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0033693Phantosmia1PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0000458Anosmia1PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0034004Parosmia1PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0034004Parosmia1PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0034004Parosmia1PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0034004Parosmia1PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0033693Phantosmia1PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0000458Anosmia1PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0004409Hyposmia1PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0033693Phantosmia1PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0000458Anosmia1PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0004409Hyposmia1PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0004409Hyposmia1PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0033693Phantosmia1PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0000458Anosmia1PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0004409Hyposmia1PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0033693Phantosmia1PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0000458Anosmia1PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0034004Parosmia1PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0034004Parosmia1PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0034004Parosmia1REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0004409Hyposmia1REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0033693Phantosmia1REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0000458Anosmia1REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0034004Parosmia1SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0034004Parosmia1SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0004409Hyposmia1SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0033693Phantosmia1SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0000458Anosmia1SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0004409Hyposmia1SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0033693Phantosmia1SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0000458Anosmia1SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0034004Parosmia1SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0034004Parosmia1SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0033693Phantosmia1SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0000458Anosmia1SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0004409Hyposmia1SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0033693Phantosmia1SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0000458Anosmia1SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0004409Hyposmia1SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0010635Partial hyposmia2FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0011161Focal sensory seizure with olfactory features2FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0010633Partial anosmia2FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0010632Total anosmia2FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0010634Total hyposmia2FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0012247Specific anosmia2FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0010634Total hyposmia2FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0012247Specific anosmia2FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0010635Partial hyposmia2FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0011161Focal sensory seizure with olfactory features2FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0010633Partial anosmia2FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0010632Total anosmia2FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0012247Specific anosmia2PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0010634Total hyposmia2PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0010633Partial anosmia2PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0010632Total anosmia2PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0010635Partial hyposmia2PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0010632Total anosmia2PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0010635Partial hyposmia2PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0010633Partial anosmia2PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0012247Specific anosmia2PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0010634Total hyposmia2PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0010634Total hyposmia2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0012247Specific anosmia2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0010634Total hyposmia2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0012247Specific anosmia2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0010635Partial hyposmia2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0010633Partial anosmia2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0010632Total anosmia2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0010635Partial hyposmia2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0010633Partial anosmia2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0010632Total anosmia2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0010633Partial anosmia2PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0010632Total anosmia2PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0010635Partial hyposmia2PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0010633Partial anosmia2PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0010632Total anosmia2PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0010635Partial hyposmia2PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0010634Total hyposmia2PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0012247Specific anosmia2PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0010634Total hyposmia2PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0012247Specific anosmia2PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0012247Specific anosmia2PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0010634Total hyposmia2PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0010634Total hyposmia2PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0012247Specific anosmia2PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0010632Total anosmia2PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0010635Partial hyposmia2PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0010633Partial anosmia2PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0010632Total anosmia2PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0010635Partial hyposmia2PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0011161Focal sensory seizure with olfactory features2PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0010633Partial anosmia2PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0010632Total anosmia2REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0012247Specific anosmia2REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0010634Total hyposmia2REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0010633Partial anosmia2REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0010635Partial hyposmia2REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0011161Focal sensory seizure with olfactory features2REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0010635Partial hyposmia2SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0011161Focal sensory seizure with olfactory features2SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0010633Partial anosmia2SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0010632Total anosmia2SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0010635Partial hyposmia2SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0011161Focal sensory seizure with olfactory features2SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0010633Partial anosmia2SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0010632Total anosmia2SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0010634Total hyposmia2SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0012247Specific anosmia2SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0010634Total hyposmia2SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0012247Specific anosmia2SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0011161Focal sensory seizure with olfactory features2SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0010633Partial anosmia2SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0010632Total anosmia2SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0010635Partial hyposmia2SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0011161Focal sensory seizure with olfactory features2SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0010633Partial anosmia2SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0010632Total anosmia2SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0010635Partial hyposmia2SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0012247Specific anosmia2SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0010634Total hyposmia2SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0012247Specific anosmia2SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0010634Total hyposmia2SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3FOXE3 CL E G H230188632ORPHA01523808601094
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3FOXE3 CL E G H230188632ORPHA01763808601094
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PITX3 CL E G H530988632ORPHA0399006602669
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PITX3 CL E G H530988632ORPHA0419006602669
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PLXND1 CL E G H23129570ORPHA01139107604282
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PLXND1 CL E G H23129570ORPHA01129107604282
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PTCH1 CL E G H5727377ORPHA029889585601309
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PTCH1 CL E G H5727377ORPHA026289585601309
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PTCH2 CL E G H8643377ORPHA05419586603673
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3PTCH2 CL E G H8643377ORPHA04269586603673
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3REV3L CL E G H5980570ORPHA01299968602776
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3SOX9 CL E G H6662140Atresia of small intestineORPHA024211204608160
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3SOX9 CL E G H6662140Atresia of small intestineORPHA021111204608160
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3SUFU CL E G H51684377ORPHA070316466607035
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3SUFU CL E G H51684377ORPHA081516466607035
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3SUFU CL E G H51684377ORPHA070316466607035


Genes (62) :ANK1 ANOS1 ARNT2 ARSE ATP13A2 ATP7A CCDC141 CEP290 CHD7 DCC DNAI1 DNAJC13 DUSP6 EIF4G1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FOXE3 GBA GIGYF2 HESX1 HS6ST1 HYLS1 IFT27 IL17RD KIF7 KISS1 KISS1R LRRK2 MFN2 NSMF OTX2 PEX7 PHYH PITX3 PLXND1 PROK2 PROKR2 PTCH1 PTCH2 PTPN11 REV3L SCN9A SCP2 SEMA3A SEMA3E SHH SMCHD1 SNCA SOX10 SOX2 SOX3 SOX9 SPRY4 SUFU TAC3 TACR3 TSHZ1 VPS35 WDR11

Diseases (43) :198 88632 2189 570 377 140 251066 478 308700 3157 302950 606693 611755 138 214800 612370 244400 411602 616030 612702 147950 615996 615267 614842 614837 601152 614838 773 266500 610628 244200 151100 243000 613724 147250 603457 2250 609136 611584 613266 614839 607842 614858
 

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