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 form of the vertebral bodies (HP:0003312)

Parent Node:
Vertebral wedging (HP:0008422)

..Starting node
..Anterior wedging of T12 (HP:0011940)

Term ID:

11940

Name:

Anterior wedging of T12

Synonym:

Anterior wedging of the 12th thoracic vertebra; Wedge-shaped 12th thoracic vertebra

Definition:

An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).

Comments:

Reference:

HP:0011940

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior wedging of L1 (HP:0008432)

Anterior wedging of L2 (HP:0011941)

Anterior wedging of T11 (HP:0004573)

Posterior wedging of vertebral bodies (HP:0008444)

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:0011940	HP:0011940	Anterior wedging of T12	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0011940	HP:0011940	Anterior wedging of T12	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410

Genes (2) :BGN FANCC

Diseases (2) :OMIM:300106 OMIM:227645

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