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

..Starting node
..Hypercystinemia (HP:0500151)

Term ID:

500151

Name:

Hypercystinemia

Synonym:

High blood cystine levels; Increased blood cystine concentraions

Definition:

An increased amount of cystine in the blood.

Comments:

Reference:

HP:0500151

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:0500151	HP:0500151	Hypercystinemia	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15

Genes (1) :AASS

Diseases (1) :ORPHA:3124

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