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 alveolar ridges (HP:0006477)

Parent Node:
Broad alveolar ridges (HP:0000187)

..Starting node
..Broad secondary alveolar ridge (HP:0000216)

Term ID:

216

Name:

Broad secondary alveolar ridge

Synonym:

Secondary alveolar ridges

Definition:

Comments:

Reference:

HP:0000216

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000216	HP:0000216	Broad secondary alveolar ridge	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000216	HP:0000216	Broad secondary alveolar ridge	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (2) :FIG4 VAC14

Diseases (1) :ORPHA:3472

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