Human Phenotype Ontology

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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:
Abnormality of amino acid metabolism (HP:0004337)

Grandparent Node:
Aciduria (HP:0012072)

Parent Node:
Abnormal circulating cysteine concentration (HP:0010918)

Parent Node:
Aminoaciduria (HP:0003355)

..Starting node
..Cystinuria (HP:0003131)

Term ID:

3131

Name:

Cystinuria

Synonym:

High urine cystine levels

Definition:

An increased concentration of cystine in the urine.

Comments:

Reference:

HP:0003131

Genes and Diseases:

Child Nodes:

Sister Nodes:

3-Methylglutaconic aciduria (HP:0003535)

Argininuria (HP:0003268)

Carnosinuria (HP:0003167)

Complex organic aciduria (HP:0008336)

Cystathioninuria (HP:0003153)

Diaminoaciduria (HP:0008339)

Dibasicaminoaciduria (HP:0003168)

Elevated urinary aminoisobutyric acid (HP:0045034)

Generalized aminoaciduria (HP:0002909)

Histidinuria (HP:0002927)

Homocystinuria (HP:0002156)

Hydroxyprolinuria (HP:0003080)

Hyperglutaminuria (HP:0025376)

Hyperglycinuria (HP:0003108)

Hyperlysinuria (HP:0003297)

Hyperthreoninuria (HP:0003296)

Increased urinary taurine (HP:0003166)

Lacticaciduria (HP:0003648)

Neutral hyperaminoaciduria (HP:0008353)

obsolete Renal aminoaciduria (HP:0008335)

Ornithinuria (HP:0003532)

Phosphohydroxylysinuria (HP:0031870)

Prolinuria (HP:0003137)

Transient aminoaciduria (HP:0008273)

Tryptophanuria (HP:0003361)

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:0003131	HP:0003131	Cystinuria	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent	15
HP:0003131	HP:0003131	Cystinuria	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0003131	HP:0003131	Cystinuria	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0003131	HP:0003131	Cystinuria	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0003131	HP:0003131	Cystinuria	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0003131	HP:0003131	Cystinuria	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	7
HP:0003131	HP:0003131	Cystinuria	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0003131	HP:0003131	Cystinuria	0	SLC3A1 CL E G H	6519	11025	OMIM:220100	CYSTINURIA	.	55
HP:0003131	HP:0003131	Cystinuria	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	55
HP:0003131	HP:0003131	Cystinuria	0	SLC7A9 CL E G H	11136	11067	OMIM:220100	CYSTINURIA	.	58

Genes (6) :AASS CAMKMT PPM1B PREPL SLC3A1 SLC7A9

Diseases (5) :ORPHA:2203 ORPHA:3124 ORPHA:163693 ORPHA:163690 OMIM:220100

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

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