Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Overhanging nasal tip (HP:0011833)

Term ID:

11833

Name:

Overhanging nasal tip

Synonym:

Drooping nasal tip; Hooked tip of nose; Low hanging nasal tip; Nasal tip, overhanging; Overhanging nasal tip

Definition:

Positioning of the nasal tip inferior to the nasal base.

Comments:

Reference:

HP:0011833

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)

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:0011833	HP:0011833	Overhanging nasal tip	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0011833	HP:0011833	Overhanging nasal tip	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0011833	HP:0011833	Overhanging nasal tip	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011833	HP:0011833	Overhanging nasal tip	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011833	HP:0011833	Overhanging nasal tip	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0011833	HP:0011833	Overhanging nasal tip	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0011833	HP:0011833	Overhanging nasal tip	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0011833	HP:0011833	Overhanging nasal tip	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85

Genes (8) :ATN1 COG4 MAPKAPK5 METTL5 PRKACA SIN3A TCF4 TGFB3

Diseases (8) :OMIM:618494 ORPHA:85172 OMIM:619869 OMIM:618665 OMIM:619142 OMIM:613406 ORPHA:2896 OMIM:615582

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

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