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:
Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Parent Node:
Vertebral hypoplasia (HP:0008417)

..Starting node
..Hypoplastic 5th lumbar vertebrae (HP:0008424)

Term ID:

8424

Name:

Hypoplastic 5th lumbar vertebrae

Synonym:

Underdeveloped 5th lumbar vertebrae

Definition:

Comments:

Reference:

HP:0008424

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central vertebral hypoplasia (HP:0008463)

Hypoplastic cervical vertebrae (HP:0008434)

Hypoplastic coccygeal vertebrae (HP:0008447)

Hypoplastic sacral vertebrae (HP:0008475)

Hypoplastic vertebral bodies (HP:0008479)

Posterior vertebral hypoplasia (HP:0008451)

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:0008424	HP:0008424	Hypoplastic 5th lumbar vertebrae	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138

Genes (1) :NOTCH2

Diseases (1) :ORPHA:955

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