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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating nitrogen compound concentration (HP:0004364)

..Starting node
..Episodic ammonia intoxication (HP:0001951)

Term ID:

1951

Name:

Episodic ammonia intoxication

Synonym:

Definition:

Comments:

Reference:

HP:0001951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating biopterin concentration (HP:0040210)

Abnormal circulating creatinine concentration (HP:0012100)

Abnormal circulating neopterin concentration (HP:0040206)

Azotemia (HP:0002157)

Hyperuricosuria (HP:0003149)

Hypoammonemia (HP:0100493)

Increased level of allantoin in serum (HP:0410052)

Urocanic aciduria (HP:0012237)

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:0001951	HP:0001951	Episodic ammonia intoxication	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0001951	HP:0001951	Episodic ammonia intoxication	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0001951	HP:0001951	Episodic ammonia intoxication	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0001951	HP:0001951	Episodic ammonia intoxication	0	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency	HP:0040281 - Very frequent	124
HP:0001951	HP:0001951	Episodic ammonia intoxication	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369

Genes (4) :ASL ASS1 CPS1 OTC

Diseases (5) :OMIM:207900 OMIM:215700 OMIM:237300 ORPHA:147 OMIM:311250

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