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 pelvic girdle bone morphology (HP:0002644)

Grandparent Node:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal coccyx morphology (HP:0008519)

..Starting node
..Long coccyx (HP:0002831)

Term ID:

2831

Name:

Long coccyx

Synonym:

Long tailbone

Definition:

Comments:

Reference:

HP:0002831

Genes and Diseases:

Child Nodes:

Sister Nodes:

Caudal appendage (HP:0002825)

Prominent coccyx (HP:0040016)

Protruding coccyx (HP:0040017)

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:0002831	HP:0002831	Long coccyx	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.