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:
Reduced bone mineral density (HP:0004349)

Parent Node:
Abnormality of the lower limb (HP:0002814)

Parent Node:
Rickets (HP:0002748)

..Starting node
..Rickets of the lower limbs (HP:0006463)

Term ID:

6463

Name:

Rickets of the lower limbs

Synonym:

Definition:

Comments:

Reference:

HP:0006463

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypophosphatemic rickets (HP:0004912)

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:0006463	HP:0006463	Rickets of the lower limbs	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0006463	HP:0006463	Rickets of the lower limbs	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0006463	HP:0006463	Rickets of the lower limbs	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional	107

Genes (3) :DMP1 ENPP1 FAH

Diseases (2) :ORPHA:289176 ORPHA:882

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