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 axial skeleton morphology (HP:0009121)

Parent Node:
Abnormal number of vertebrae (HP:0030304)

Parent Node:
Supernumerary bones of the axial skeleton (HP:0009144)

..Starting node
..Supernumerary vertebrae (HP:0002946)

Term ID:

2946

Name:

Supernumerary vertebrae

Synonym:

Definition:

Comments:

Reference:

HP:0002946

Genes and Diseases:

Child Nodes:

........

Six lumbar vertebrae (HP:0008416)

Sister Nodes:

Supernumerary ribs (HP:0005815)

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:0002946	HP:0002946	Supernumerary vertebrae	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0002946	HP:0002946	Supernumerary vertebrae	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0002946	HP:0002946	Supernumerary vertebrae	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002946	HP:0002946	Supernumerary vertebrae	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002946	HP:0002946	Supernumerary vertebrae	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0002946	HP:0008416	Six lumbar vertebrae	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0002946	HP:0008416	Six lumbar vertebrae	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002946	HP:0008416	Six lumbar vertebrae	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1

Genes (5) :DHODH GDF11 GPC3 GPC4 PAX3

Diseases (4) :OMIM:263750 OMIM:619122 OMIM:312870 OMIM:193500

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