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 external nose morphology (HP:0010938)

Parent Node:
Abnormal nasal tip morphology (HP:0000436)

..Starting node
..Triangular nasal tip (HP:0000451)

Term ID:

451

Name:

Triangular nasal tip

Synonym:

Triangular nasal tip; Triangular shaped tip of nose

Definition:

Comments:

Reference:

HP:0000451

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid nasal tip (HP:0000456)

Broad nasal tip (HP:0000455)

Bulbous nose (HP:0000414)

Depressed nasal tip (HP:0000437)

Deviated nasal tip (HP:0011831)

Dimple on nasal tip (HP:0004132)

Hypoplastic nasal tip (HP:0005278)

Narrow nasal tip (HP:0011832)

Overhanging nasal tip (HP:0011833)

Prominent nasal tip (HP:0005274)

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:0000451	HP:0000451	Triangular nasal tip	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000451	HP:0000451	Triangular nasal tip	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent	241

Genes (2) :ATRX TCF4

Diseases (2) :OMIM:309580 ORPHA:2896

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