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 urine phosphate concentration (HP:0012599)

Parent Node:
Hyperphosphaturia (HP:0003109)

..Starting node
..Phosphoethanolaminuria (HP:0003239)

Term ID:

3239

Name:

Phosphoethanolaminuria

Synonym:

High urine phosphoethanolamine levels; Increased level of O-phosphoethanolamine in urine; Increased urine O-phosphoethanolamine level

Definition:

An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.

Comments:

Reference:

HP:0003239

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0003239	HP:0003239	Phosphoethanolaminuria	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0003239	HP:0003239	Phosphoethanolaminuria	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126

Genes (1) :ALPL

Diseases (2) :OMIM:241510 OMIM:241500

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