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:
Beaking of vertebral bodies (HP:0004568)

..Starting node
..Anterior beaking of lumbar vertebrae (HP:0008430)

Term ID:

8430

Name:

Anterior beaking of lumbar vertebrae

Synonym:

Anterior tongue-like protrusion of lumbar vertebral bodies

Definition:

Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.

Comments:

Reference:

HP:0008430

Genes and Diseases:

Child Nodes:

........

Tongue-like lumbar vertebral deformities (HP:0005680)

Sister Nodes:

Anterior beaking of lower thoracic vertebrae (HP:0004607)

Anterior beaking of thoracic vertebrae (HP:0004630)

Beaking of vertebral bodies T12-L3 (HP:0004562)

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:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent	76
HP:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0008430	HP:0008430	Anterior beaking of lumbar vertebrae	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0008430	HP:0005680	Tongue-like lumbar vertebral deformities	1	CL E G H

Genes (5) :AGA FUCA1 GALNS GLB1 GUSB

Diseases (7) :ORPHA:93 OMIM:230000 ORPHA:349 OMIM:253000 OMIM:230650 ORPHA:584 OMIM:253220

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