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 dorsum morphology (HP:0011119)

..Starting node
..Wide nasal ridge (HP:0012811)

Term ID:

12811

Name:

Wide nasal ridge

Synonym:

Broad dorsum of nose; Broad nasal dorsum; Broad nasal ridge; Increased width of dorsum of nose; Increased width of nasal dorsum; Increased width of nasal ridge; Nasal ridge, wide; Wide dorsum of nose; Wide nasal dorsum; Wide nasal ridge

Definition:

Increased width of the nasal ridge.

Comments:

Reference:

HP:0012811

Genes and Diseases:

Child Nodes:

Sister Nodes:

Concave nasal ridge (HP:0011120)

Convex nasal ridge (HP:0000444)

Depressed nasal ridge (HP:0000457)

Large beaked nose (HP:0003683)

Narrow nasal ridge (HP:0000418)

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:0012811	HP:0012811	Wide nasal ridge	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0012811	HP:0012811	Wide nasal ridge	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	HP:0040283 - Occasional	132
HP:0012811	HP:0012811	Wide nasal ridge	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0012811	HP:0012811	Wide nasal ridge	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0012811	HP:0012811	Wide nasal ridge	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012811	HP:0012811	Wide nasal ridge	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012811	HP:0012811	Wide nasal ridge	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0012811	HP:0012811	Wide nasal ridge	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0012811	HP:0012811	Wide nasal ridge	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0012811	HP:0012811	Wide nasal ridge	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22

Genes (9) :ALX4 AP4M1 HNRNPK METTL5 MSL3 POLR3A RPL10 SUZ12 TBL1XR1

Diseases (10) :OMIM:613451 OMIM:609597 OMIM:612936 OMIM:616580 OMIM:618665 OMIM:301032 ORPHA:3455 ORPHA:459070 OMIM:618786 ORPHA:487825

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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