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)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

..Starting node
..Relatively short spine (HP:0002766)

Term ID:

2766

Name:

Relatively short spine

Synonym:

Relatively short spine

Definition:

Comments:

Reference:

HP:0002766

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the cervical spine (HP:0011041)

Aplasia/Hypoplasia of the sacrum (HP:0008517)

Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Hypoplasia of the odontoid process (HP:0003311)

Hypoplastic spinal processes (HP:0008460)

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:0002766	HP:0002766	Relatively short spine	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (1) :TRPV4

Diseases (1) :OMIM:156530

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