Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the tongue (HP:0000157)

Parent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Abnormal tongue physiology (HP:0030810)

..Starting node
..Abnormality of taste sensation (HP:0000223)

Term ID:

223

Name:

Abnormality of taste sensation

Synonym:

Abnormality of taste sensation

Definition:

Comments:

Reference:

HP:0000223

Genes and Diseases:

Child Nodes:

........

Decreased taste sensation (HP:0000224)

........

Parageusia (HP:0031249)

Sister Nodes:

Movement abnormality of the tongue (HP:0000182)

Tongue fasciculations (HP:0001308)

Tongue pain (HP:0030811)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000223	HP:0000223	Abnormality of taste sensation	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0000223	HP:0000223	Abnormality of taste sensation	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0000223	HP:0000223	Abnormality of taste sensation	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0000223	HP:0000223	Abnormality of taste sensation	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0000223	HP:0000223	Abnormality of taste sensation	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0000223	HP:0000223	Abnormality of taste sensation	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0000223	HP:0031249	Parageusia	1	CL E G H
HP:0000223	HP:0041051	Ageusia	1	CL E G H
HP:0000223	HP:0033847	Phantageusia	1	CL E G H
HP:0000223	HP:0000224	Hypogeusia	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0000223	HP:0000224	Hypogeusia	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0000223	HP:0000224	Hypogeusia	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0000223	HP:0000224	Hypogeusia	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0000223	HP:0000224	Hypogeusia	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0000223	HP:0000224	Hypogeusia	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199

Genes (6) :ELP1 KIF1A RETREG1 SCN9A SLC39A4 WNK1

Diseases (3) :OMIM:223900 OMIM:201300 OMIM:201100

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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