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:
Abnormal consumption behavior (HP:0040202)

Parent Node:
Abnormal eating behavior (HP:0100738)

..Starting node
..Salt craving (HP:0030083)

Term ID:

30083

Name:

Salt craving

Synonym:

Salt craving

Definition:

An excessive desire to eat salt (sodium chloride) or salty foods.

Comments:

Reference:

HP:0030083

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bulimia (HP:0100739)

Choking episodes (HP:0030842)

Oral aversion (HP:0012523)

Pica (HP:0011856)

Polyphagia (HP:0002591)

Sweet craving (HP:0030221)

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:0030083	HP:0030083	Salt craving	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0030083	HP:0030083	Salt craving	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0030083	HP:0030083	Salt craving	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0030083	HP:0030083	Salt craving	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0030083	HP:0030083	Salt craving	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145

Genes (3) :CLCNKB KCNJ10 SLC12A3

Diseases (4) :ORPHA:358 ORPHA:199343 OMIM:612780 OMIM:263800

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