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 carnitine concentration (HP:0010967)

Grandparent Node:
Abnormality of mitochondrial metabolism (HP:0003287)

Parent Node:
Decreased plasma carnitine (HP:0003234)

..Starting node
..Decreased plasma total carnitine (HP:0011936)

Term ID:

11936

Name:

Decreased plasma total carnitine

Synonym:

Decreased plasma total carnitine

Definition:

A decreased concentration of total carnitine in the blood.

Comments:

Reference:

HP:0011936

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased plasma free carnitine (HP:0008315)

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:0011936	HP:0011936	Decreased plasma total carnitine	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0011936	HP:0011936	Decreased plasma total carnitine	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0011936	HP:0011936	Decreased plasma total carnitine	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0011936	HP:0011936	Decreased plasma total carnitine	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0011936	HP:0011936	Decreased plasma total carnitine	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0011936	HP:0011936	Decreased plasma total carnitine	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6

Genes (4) :ACADM COL7A1 CPT2 MMP1

Diseases (5) :ORPHA:42 ORPHA:79408 ORPHA:228308 ORPHA:228305 OMIM:608836

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