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 fluid regulation (HP:0011032)

Parent Node:
Dehydration (HP:0001944)

..Starting node
..Hypertonic dehydration (HP:0001986)

Term ID:

1986

Name:

Hypertonic dehydration

Synonym:

Hyperosmolar dehydration

Definition:

Comments:

Reference:

HP:0001986

Genes and Diseases:

Child Nodes:

........

Hypernatremic dehydration (HP:0004906)

Sister Nodes:

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:0001986	HP:0001986	Hypertonic dehydration	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0001986	HP:0001986	Hypertonic dehydration	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0001986	HP:0001986	Hypertonic dehydration	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0001986	HP:0001986	Hypertonic dehydration	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0001986	HP:0001986	Hypertonic dehydration	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0001986	HP:0001986	Hypertonic dehydration	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0001986	HP:0001986	Hypertonic dehydration	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001986	HP:0004906	Hypernatremic dehydration	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	75
HP:0001986	HP:0004906	Hypernatremic dehydration	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	67
HP:0001986	HP:0004906	Hypernatremic dehydration	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0001986	HP:0004906	Hypernatremic dehydration	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100

Genes (5) :AQP2 AVPR2 CA12 SLC5A1 SPINK5

Diseases (6) :OMIM:125800 ORPHA:223 OMIM:304800 OMIM:143860 OMIM:606824 OMIM:256500

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