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:
Azotemia (HP:0002157)

Parent Node:
Hyperammonemia (HP:0001987)

..Starting node
..Acute hyperammonemia (HP:0008281)

Term ID:

8281

Name:

Acute hyperammonemia

Synonym:

Hyperammonemia, acute

Definition:

An increased concentration of ammonia in the blood with sudden onset.

Comments:

Reference:

HP:0008281

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymptomatic hyperammonemia (HP:0008162)

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:0008281	HP:0008281	Acute hyperammonemia	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0008281	HP:0008281	Acute hyperammonemia	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0008281	HP:0008281	Acute hyperammonemia	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0008281	HP:0008281	Acute hyperammonemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent	82

Genes (4) :MCCC1 MCCC2 NAGS SLC25A13

Diseases (4) :OMIM:210200 OMIM:210210 ORPHA:927 ORPHA:247585

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