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 blood phosphate concentration (HP:0100529)

Parent Node:
Hypophosphatemia (HP:0002148)

..Starting node
..Transient hypophosphatemia (HP:0008285)

Term ID:

8285

Name:

Transient hypophosphatemia

Synonym:

Definition:

Comments:

Reference:

HP:0008285

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypophosphatemic rickets (HP:0004912)

Renal hypophosphatemia (HP:0008732)

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:0008285	HP:0008285	Transient hypophosphatemia	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0008285	HP:0008285	Transient hypophosphatemia	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0008285	HP:0008285	Transient hypophosphatemia	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0008285	HP:0008285	Transient hypophosphatemia	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10

Genes (4) :CACNA1S FAM111A GABRA3 KCNJ18

Diseases (2) :ORPHA:79102 OMIM:127000

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