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 lumbar spine morphology (HP:0100712)

Parent Node:
Lumbar kyphosis (HP:0008454)

..Starting node
..Lumbar kyphosis in infancy (HP:0008414)

Term ID:

8414

Name:

Lumbar kyphosis in infancy

Synonym:

Hunched back in infancy; Round back in infancy

Definition:

Comments:

Reference:

HP:0008414

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lumbar kyphoscoliosis (HP:0004619)

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:0008414	HP:0008414	Lumbar kyphosis in infancy	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145

Genes (1) :FGFR3

Diseases (1) :OMIM:100800

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