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 circulating aspartate family amino acid concentration (HP:0010899)

Parent Node:
Abnormal circulating amino acid concentration (HP:0003112)

Parent Node:
Abnormal circulating lysine concentration (HP:0010908)

..Starting node
..Hyperlysinemia (HP:0002161)

Term ID:

2161

Name:

Hyperlysinemia

Synonym:

Elevated blood lysine

Definition:

An increased concentration of lysine in the blood.

Comments:

Reference:

HP:0002161

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperlysinuria (HP:0003297)

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:0002161	HP:0002161	Hyperlysinemia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent	15
HP:0002161	HP:0002161	Hyperlysinemia	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0002161	HP:0002161	Hyperlysinemia	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040281 - Very frequent	15
HP:0002161	HP:0002161	Hyperlysinemia	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002161	HP:0002161	Hyperlysinemia	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0002161	HP:0002161	Hyperlysinemia	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0002161	HP:0002161	Hyperlysinemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82

Genes (4) :AASS MICU1 NADK2 SLC25A13

Diseases (7) :ORPHA:2203 OMIM:238700 ORPHA:3124 OMIM:615673 OMIM:616034 ORPHA:431361 ORPHA:247598

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