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
..Bifid nasal tip (HP:0000456)

Term ID:

456

Name:

Bifid nasal tip

Synonym:

Bifid tip of nose; Cleft nasal tip; Cleft tip of nose; Notched nasal tip; Notched tip of nose

Definition:

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.

Comments:

Reference:

HP:0000456

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

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:0000456	HP:0000456	Bifid nasal tip	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000456	HP:0000456	Bifid nasal tip	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0000456	HP:0000456	Bifid nasal tip	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000456	HP:0000456	Bifid nasal tip	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000456	HP:0000456	Bifid nasal tip	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040281 - Very frequent	101
HP:0000456	HP:0000456	Bifid nasal tip	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000456	HP:0000456	Bifid nasal tip	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0000456	HP:0000456	Bifid nasal tip	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000456	HP:0000456	Bifid nasal tip	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040283 - Occasional	198
HP:0000456	HP:0000456	Bifid nasal tip	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000456	HP:0000456	Bifid nasal tip	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0000456	HP:0000456	Bifid nasal tip	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000456	HP:0000456	Bifid nasal tip	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000456	HP:0000456	Bifid nasal tip	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000456	HP:0000456	Bifid nasal tip	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000456	HP:0000456	Bifid nasal tip	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000456	HP:0000456	Bifid nasal tip	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0000456	HP:0000456	Bifid nasal tip	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5

Genes (16) :ALX3 ALX4 ATP6V1B2 BCOR CDH11 CENPJ EFNB1 FREM1 FRMPD4 FZD2 H4C3 HSPA9 KAT6A NAA10 SCNM1 ZSWIM6

Diseases (18) :OMIM:136760 OMIM:613451 OMIM:616455 OMIM:300166 ORPHA:2712 OMIM:211380 OMIM:608393 OMIM:304110 ORPHA:2717 OMIM:300983 OMIM:164745 OMIM:619758 OMIM:616854 OMIM:616268 OMIM:300855 OMIM:620107 OMIM:603671 ORPHA:1827

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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