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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormality of the curvature of the vertebral column (HP:0010674)

..Starting node
..Abnormally straight spine (HP:0100795)

Term ID:

100795

Name:

Abnormally straight spine

Synonym:

Abnormally straight spine

Definition:

The absence of the normal curvature of the vertebral column.

Comments:

Reference:

HP:0100795

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cervical curvature (HP:0005905)

Camptocormia (HP:0100595)

Hyperlordosis (HP:0003307)

Kyphosis (HP:0002808)

Scoliosis (HP:0002650)

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:0100795	HP:0100795	Abnormally straight spine	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345

Genes (1) :HSPG2

Diseases (1) :ORPHA:800

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