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:
Synostosis of joints (HP:0100240)

Grandparent Node:
Vertebral segmentation defect (HP:0003422)

Parent Node:
Vertebral fusion (HP:0002948)

..Starting node
..Fused thoracic vertebrae (HP:0030039)

Term ID:

30039

Name:

Fused thoracic vertebrae

Synonym:

Definition:

A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.

Comments:

Reference:

HP:0030039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal vertebral segmentation and fusion (HP:0005640)

Anterior vertebral fusion (HP:0004557)

Block vertebrae (HP:0003305)

Fused cervical vertebrae (HP:0002949)

Fused lumbar vertebrae (HP:0030040)

Posterior fusion of lumbosacral vertebrae (HP:0005626)

Sacralization of the fifth lumbar vertebra (HP:0030125)

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:0030039	HP:0030039	Fused thoracic vertebrae	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B	166

Genes (1) :MYH3

Diseases (1) :OMIM:618469

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