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

..Starting node
..Hypoplastic nasal bone (HP:0025707)

Term ID:

25707

Name:

Hypoplastic nasal bone

Synonym:

Definition:

Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.

Comments:

Reference:

HP:0025707

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025707	HP:0025707	Hypoplastic nasal bone	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	215

Genes (1) :COL11A1

Diseases (1) :OMIM:154780

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