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:
Biconcave vertebral bodies (HP:0004586)

Parent Node:
Platyspondyly (HP:0000926)

..Starting node
..Biconcave flattened vertebrae (HP:0003321)

Term ID:

3321

Name:

Biconcave flattened vertebrae

Synonym:

Definition:

Comments:

Reference:

HP:0003321

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical platyspondyly (HP:0004558)

Flattened moderately deformed vertebrae (HP:0005752)

Lumbar platyspondyly (HP:0005787)

Severe platyspondyly (HP:0004565)

Squared-off platyspondyly (HP:0008418)

Supernumerary vertebral ossification centers (HP:0004598)

Thoracic platyspondyly (HP:0004592)

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:0003321	HP:0003321	Biconcave flattened vertebrae	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0003321	HP:0003321	Biconcave flattened vertebrae	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0003321	HP:0003321	Biconcave flattened vertebrae	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243

Genes (2) :COL1A1 COL1A2

Diseases (2) :OMIM:166200 OMIM:166220

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