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
..Narrow nasal tip (HP:0011832)

Term ID:

11832

Name:

Narrow nasal tip

Synonym:

Narrow nasal tip; Narrow tip of nose; Nasal tip, narrow; Nasal tip, pinched; Pinched nasal tip; Pinched tip of nose; Thin nasal tip; Thin tip of nose

Definition:

Decrease in width of the nasal tip.

Comments:

Reference:

HP:0011832

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)

Overhanging nasal tip (HP:0011833)

Prominent nasal tip (HP:0005274)

Triangular nasal tip (HP:0000451)

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:0011832	HP:0011832	Narrow nasal tip	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0011832	HP:0011832	Narrow nasal tip	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0011832	HP:0011832	Narrow nasal tip	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (3) :KDM1A LMNA ZMPSTE24

Diseases (2) :ORPHA:477993 ORPHA:740

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