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 renal morphology (HP:0012210)

Parent Node:
Renal malrotation (HP:0004712)

..Starting node
..Axial malrotation of the kidney (HP:0004717)

Term ID:

4717

Name:

Axial malrotation of the kidney

Synonym:

Definition:

An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.

Comments:

Reference:

HP:0004717

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:0004717	HP:0004717	Axial malrotation of the kidney	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0004717	HP:0004717	Axial malrotation of the kidney	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10

Genes (1) :RBM8A

Diseases (2) :ORPHA:3320 OMIM:274000

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