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 dorsum morphology (HP:0011119)

..Starting node
..Narrow nasal ridge (HP:0000418)

Term ID:

418

Name:

Narrow nasal ridge

Synonym:

Decreased width of dorsum of nose; Decreased width of nasal dorsum; Decreased width of nasal ridge; Narrow dorsum of nose; Narrow nasal dorsum; Narrow nasal ridge; Pinched nose; Thin dorsum of nose; Thin nasal dorsum; Thin nasal ridge

Definition:

Decreased width of the nasal ridge.

Comments:

Reference:

HP:0000418

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)

Wide nasal ridge (HP:0012811)

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:0000418	HP:0000418	Narrow nasal ridge	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000418	HP:0000418	Narrow nasal ridge	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000418	HP:0000418	Narrow nasal ridge	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000418	HP:0000418	Narrow nasal ridge	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000418	HP:0000418	Narrow nasal ridge	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000418	HP:0000418	Narrow nasal ridge	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000418	HP:0000418	Narrow nasal ridge	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0000418	HP:0000418	Narrow nasal ridge	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000418	HP:0000418	Narrow nasal ridge	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000418	HP:0000418	Narrow nasal ridge	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000418	HP:0000418	Narrow nasal ridge	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000418	HP:0000418	Narrow nasal ridge	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0000418	HP:0000418	Narrow nasal ridge	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0000418	HP:0000418	Narrow nasal ridge	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000418	HP:0000418	Narrow nasal ridge	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000418	HP:0000418	Narrow nasal ridge	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000418	HP:0000418	Narrow nasal ridge	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000418	HP:0000418	Narrow nasal ridge	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000418	HP:0000418	Narrow nasal ridge	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0000418	HP:0000418	Narrow nasal ridge	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000418	HP:0000418	Narrow nasal ridge	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000418	HP:0000418	Narrow nasal ridge	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0000418	HP:0000418	Narrow nasal ridge	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000418	HP:0000418	Narrow nasal ridge	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (18) :ADAT3 ALDH18A1 CAV1 CEP55 CLCN3 COL3A1 FBN1 FOCAD HNRNPH1 HRAS LMNA MTX2 NRAS POLR3A PYCR1 SMARCA2 WDR73 ZMPSTE24

Diseases (22) :ORPHA:363528 OMIM:219150 OMIM:606721 OMIM:236500 OMIM:619512 OMIM:130050 OMIM:618343 OMIM:616914 OMIM:619991 OMIM:620083 OMIM:137550 ORPHA:280365 ORPHA:740 OMIM:248370 OMIM:619127 OMIM:264090 OMIM:612940 OMIM:614438 OMIM:619293 OMIM:251300 OMIM:608612 OMIM:275210

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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