Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 aromatic amino acid concentration (HP:0004338)

Parent Node:
Abnormal circulating tyrosine concentration (HP:0010917)

..Starting node
..Hypertyrosinemia (HP:0003231)

Term ID:

3231

Name:

Hypertyrosinemia

Synonym:

Increased tyrosine in blood; Tyrosinemia

Definition:

An increased concentration of tyrosine in the blood.

Comments:

Reference:

HP:0003231

Genes and Diseases:

Child Nodes:

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:0003231	HP:0003231	Hypertyrosinemia	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0003231	HP:0003231	Hypertyrosinemia	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0003231	HP:0003231	Hypertyrosinemia	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0003231	HP:0003231	Hypertyrosinemia	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23
HP:0003231	HP:0003231	Hypertyrosinemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0003231	HP:0003231	Hypertyrosinemia	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.	43

Genes (5) :BCS1L FAH HPD SLC25A13 TAT

Diseases (6) :OMIM:124000 OMIM:276700 OMIM:140350 OMIM:276710 ORPHA:247598 OMIM:276600

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