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 acid-base homeostasis (HP:0004360)

Parent Node:
Alkalosis (HP:0001948)

..Starting node
..Respiratory alkalosis (HP:0001950)

Term ID:

1950

Name:

Respiratory alkalosis

Synonym:

Definition:

Alkalosis due to excess loss of carbon dioxide from the body.

Comments:

Reference:

HP:0001950

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypochloremic metabolic alkalosis (HP:0005977)

Hypokalemic alkalosis (HP:0001949)

Metabolic alkalosis (HP:0200114)

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:0001950	HP:0001950	Respiratory alkalosis	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0001950	HP:0001950	Respiratory alkalosis	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0001950	HP:0001950	Respiratory alkalosis	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0001950	HP:0001950	Respiratory alkalosis	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0001950	HP:0001950	Respiratory alkalosis	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0001950	HP:0001950	Respiratory alkalosis	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional	88

Genes (6) :ASL ASS1 CA5A CPS1 OTC SLC25A15

Diseases (6) :OMIM:207900 OMIM:215700 OMIM:615751 OMIM:237300 OMIM:311250 ORPHA:415

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