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
..Prominent nasal tip (HP:0005274)

Term ID:

5274

Name:

Prominent nasal tip

Synonym:

Bulbous tip of nose; Hyperplasia of nasal tip; Hyperplasia of tip of nose; Hypertrophy of nasal tip; Hypertrophy of tip of nose; Large nasal tip; Large tip of nose; Prominent nasal tip; Prominent tip of nose; Pronounced nasal tip; Pronounced tip of nose

Definition:

Comments:

Reference:

HP:0005274

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)

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:0005274	HP:0005274	Prominent nasal tip	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0005274	HP:0005274	Prominent nasal tip	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0005274	HP:0005274	Prominent nasal tip	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0005274	HP:0005274	Prominent nasal tip	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0005274	HP:0005274	Prominent nasal tip	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0005274	HP:0005274	Prominent nasal tip	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0005274	HP:0005274	Prominent nasal tip	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0005274	HP:0005274	Prominent nasal tip	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0005274	HP:0005274	Prominent nasal tip	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0005274	HP:0005274	Prominent nasal tip	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0005274	HP:0005274	Prominent nasal tip	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0005274	HP:0005274	Prominent nasal tip	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0005274	HP:0005274	Prominent nasal tip	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0005274	HP:0005274	Prominent nasal tip	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0005274	HP:0005274	Prominent nasal tip	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0005274	HP:0005274	Prominent nasal tip	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0005274	HP:0005274	Prominent nasal tip	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0005274	HP:0005274	Prominent nasal tip	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0005274	HP:0005274	Prominent nasal tip	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0005274	HP:0005274	Prominent nasal tip	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0005274	HP:0005274	Prominent nasal tip	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0005274	HP:0005274	Prominent nasal tip	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362

Genes (20) :AUTS2 BICRA CCDC8 CHD5 CHRNA7 CSGALNACT1 DPYD FLCN KCNJ6 MADD MED25 OBSL1 PCGF2 PDE4D PPP3CA PRKACB SPEN SYT1 WDR26 ZEB2

Diseases (22) :ORPHA:352490 OMIM:615834 OMIM:619325 OMIM:614205 OMIM:619873 ORPHA:199318 OMIM:618870 ORPHA:1675 OMIM:610883 ORPHA:435628 OMIM:619004 ORPHA:464738 OMIM:612921 OMIM:618371 ORPHA:439822 OMIM:617711 OMIM:619143 OMIM:619312 OMIM:618218 ORPHA:522077 ORPHA:513456 OMIM:235730

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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