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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal lumbar spine morphology (HP:0100712)

..Starting node
..Lumbar kyphosis (HP:0008454)

Term ID:

8454

Name:

Lumbar kyphosis

Synonym:

Lumbar gibbus deformity; Rounded lower back

Definition:

Over curvature of the lumbar region.

Comments:

Reference:

HP:0008454

Genes and Diseases:

Child Nodes:

........

Lumbar kyphoscoliosis (HP:0004619)

........

Lumbar kyphosis in infancy (HP:0008414)

Sister Nodes:

Lumbosacral meningocele (HP:0200133)

Thoracolumbar kyphosis (HP:0005619)

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:0008454	HP:0008454	Lumbar kyphosis	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0008454	HP:0008454	Lumbar kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0008454	HP:0008454	Lumbar kyphosis	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0008454	HP:0008454	Lumbar kyphosis	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0008454	HP:0008454	Lumbar kyphosis	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0008454	HP:0008454	Lumbar kyphosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0008454	HP:0008454	Lumbar kyphosis	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0008454	HP:0004619	Lumbar kyphoscoliosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0008454	HP:0004619	Lumbar kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0008454	HP:0008414	Lumbar kyphosis in infancy	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145

Genes (7) :ATG7 COL2A1 FGFR3 GALNS POLR3GL RPS6KA3 VPS33A

Diseases (7) :OMIM:619422 OMIM:156550 OMIM:100800 OMIM:253000 OMIM:619234 OMIM:303600 ORPHA:505248

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

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