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:
Abnormal circulating carboxylic acid concentration (HP:0004354)

Parent Node:
Abnormality of amino acid metabolism (HP:0004337)

..Starting node
..Abnormal circulating creatine concentration (HP:0012113)

Term ID:

12113

Name:

Abnormal circulating creatine concentration

Synonym:

Abnormality of creatine metabolism; Creatine metabolism abnormal

Definition:

A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.

Comments:

Reference:

HP:0012113

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating amino acid concentration (HP:0003112)

Abnormal circulating aromatic amino acid concentration (HP:0004338)

Abnormal circulating aspartate family amino acid concentration (HP:0010899)

Abnormal circulating branched chain amino acid concentration (HP:0010892)

Abnormal circulating citrulline concentration (HP:0011965)

Abnormal circulating glutamine family amino acid concentration (HP:0010902)

Abnormal circulating histidine concentration (HP:0010904)

Abnormal circulating ornithine concentration (HP:0012025)

Abnormal circulating pyruvate family amino acid concentration (HP:0010915)

Abnormal circulating sulfur amino acid concentration (HP:0004339)

Aminoaciduria (HP:0003355)

Hyperbeta-alaninemia (HP:0012556)

Propionyl-CoA carboxylase deficiency (HP:0003353)

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:0012113	HP:0012113	Abnormal circulating creatine concentration	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0012113	HP:0012113	Abnormal circulating creatine concentration	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0012113	HP:0012113	Abnormal circulating creatine concentration	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0012113	HP:0012113	Abnormal circulating creatine concentration	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0012113	HP:0012113	Abnormal circulating creatine concentration	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040281 - Very frequent	122
HP:0012113	HP:0034292	Reduced circulating creatine concentration	1	CL E G H
HP:0012113	HP:0034291	Elevated circulating creatine concentration	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122

Genes (4) :BMPR1A RPS20 SEMA4A SLC6A8

Diseases (3) :ORPHA:440437 OMIM:300352 ORPHA:52503

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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