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:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormal nasal base norphology (HP:0012808)

..Starting node
..Wide nasal base (HP:0012810)

Term ID:

12810

Name:

Wide nasal base

Synonym:

Broad base of nose; Broad nasal base; Increased width of base of nose; Increased width of nasal base; Wide base of nose; Wide nasal base

Definition:

Increased distance between the attachments of the alae nasi to the face.

Comments:

Reference:

HP:0012810

Genes and Diseases:

Child Nodes:

Sister Nodes:

Narrow nasal base (HP:0012809)

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:0012810	HP:0012810	Wide nasal base	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	HP:0040283 - Occasional	1
HP:0012810	HP:0012810	Wide nasal base	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0012810	HP:0012810	Wide nasal base	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0012810	HP:0012810	Wide nasal base	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0012810	HP:0012810	Wide nasal base	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0012810	HP:0012810	Wide nasal base	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0012810	HP:0012810	Wide nasal base	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012810	HP:0012810	Wide nasal base	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0012810	HP:0012810	Wide nasal base	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0012810	HP:0012810	Wide nasal base	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0012810	HP:0012810	Wide nasal base	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012810	HP:0012810	Wide nasal base	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0012810	HP:0012810	Wide nasal base	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0012810	HP:0012810	Wide nasal base	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0012810	HP:0012810	Wide nasal base	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0012810	HP:0012810	Wide nasal base	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0012810	HP:0012810	Wide nasal base	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0012810	HP:0012810	Wide nasal base	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0012810	HP:0012810	Wide nasal base	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012810	HP:0012810	Wide nasal base	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0012810	HP:0012810	Wide nasal base	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0012810	HP:0012810	Wide nasal base	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0012810	HP:0012810	Wide nasal base	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0012810	HP:0012810	Wide nasal base	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012810	HP:0012810	Wide nasal base	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0012810	HP:0012810	Wide nasal base	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (25) :ABCA5 ARID1A ARID1B ARID2 ATP6V1B2 BCORL1 DPF2 EXOSC2 KMT5B LIFR METTL5 MYT1L SIN3A SLC26A2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNX14 SOX11 SOX4 TBC1D24 USP9X

Diseases (15) :OMIM:135400 ORPHA:1465 ORPHA:79500 OMIM:301029 OMIM:617763 OMIM:617788 OMIM:601559 OMIM:618665 OMIM:616521 ORPHA:94065 ORPHA:56304 OMIM:601358 ORPHA:397709 OMIM:616354 ORPHA:480880

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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