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 sulfur amino acid concentration (HP:0004339)

Parent Node:
Aminoaciduria (HP:0003355)

..Starting node
..Cystathioninuria (HP:0003153)

Term ID:

3153

Name:

Cystathioninuria

Synonym:

High urine cystathionine levels

Definition:

An elevated urinary concentration of cystathionine.

Comments:

Reference:

HP:0003153

Genes and Diseases:

Child Nodes:

Sister Nodes:

3-Methylglutaconic aciduria (HP:0003535)

Argininuria (HP:0003268)

Carnosinuria (HP:0003167)

Complex organic aciduria (HP:0008336)

Cystinuria (HP:0003131)

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:0003153	HP:0003153	Cystathioninuria	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040280 - Obligate	38
HP:0003153	HP:0003153	Cystathioninuria	0	CTH CL E G H	1491	2501	OMIM:219500	CYSTATHIONINURIA	.	38
HP:0003153	HP:0003153	Cystathioninuria	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0003153	HP:0003153	Cystathioninuria	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0003153	HP:0003153	Cystathioninuria	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.

Genes (4) :CTH LMBRD1 MMACHC PRDX1

Diseases (4) :ORPHA:212 OMIM:219500 OMIM:277380 OMIM:277400

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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