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:
Platyspondyly (HP:0000926)

Parent Node:
Severe platyspondyly (HP:0004565)

..Starting node
..Wafer-thin platyspondyly (HP:0008452)

Term ID:

8452

Name:

Wafer-thin platyspondyly

Synonym:

Definition:

Comments:

Reference:

HP:0008452

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008452	HP:0008452	Wafer-thin platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	284

Genes (1) :COL2A1

Diseases (1) :OMIM:151210

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