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

Grandparent Node:
Abnormal circulating nitrogen compound concentration (HP:0004364)

Parent Node:
Abnormal circulating creatinine concentration (HP:0012100)

..Starting node
..Decreased serum creatinine (HP:0012101)

Term ID:

12101

Name:

Decreased serum creatinine

Synonym:

Decreased serum creatinine; Low blood creatinine level; Reduced creatinine levels

Definition:

An abnormally reduced amount of creatinine in the blood.

Comments:

Reference:

HP:0012101

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated circulating creatinine concentration (HP:0003259)

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:0012101	HP:0012101	Decreased serum creatinine	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0012101	HP:0012101	Decreased serum creatinine	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012101	HP:0012101	Decreased serum creatinine	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0012101	HP:0012101	Decreased serum creatinine	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0012101	HP:0012101	Decreased serum creatinine	0	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome	HP:0040282 - Frequent	3

Genes (5) :AVPR2 GALNT2 GAMT NFE2L2 NT5E

Diseases (5) :OMIM:300539 OMIM:618885 OMIM:612736 OMIM:617744 ORPHA:289601

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