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:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormal nasal bridge morphology (HP:0000422)

..Starting node
..Narrow nasal bridge (HP:0000446)

Term ID:

446

Name:

Narrow nasal bridge

Synonym:

Narrow bridge of nose; Narrow nasal bridge; Narrow nasal root; Nasal Bridge, Narrow; Nasal bridge, thin; Pinched bridge of nose; Pinched nasal bridge

Definition:

Decreased width of the bony bridge of the nose.

Comments:

Reference:

HP:0000446

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent nasal bridge (HP:0005285)

Depressed nasal bridge (HP:0005280)

Hypoplastic nasal bridge (HP:0005281)

Prominent nasal bridge (HP:0000426)

Short nasal bridge (HP:0003194)

Wide nasal bridge (HP:0000431)

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:0000446	HP:0000446	Narrow nasal bridge	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0000446	HP:0000446	Narrow nasal bridge	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	200
HP:0000446	HP:0000446	Narrow nasal bridge	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0000446	HP:0000446	Narrow nasal bridge	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000446	HP:0000446	Narrow nasal bridge	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000446	HP:0000446	Narrow nasal bridge	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000446	HP:0000446	Narrow nasal bridge	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	22
HP:0000446	HP:0000446	Narrow nasal bridge	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	3
HP:0000446	HP:0000446	Narrow nasal bridge	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000446	HP:0000446	Narrow nasal bridge	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	17
HP:0000446	HP:0000446	Narrow nasal bridge	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	172
HP:0000446	HP:0000446	Narrow nasal bridge	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	48
HP:0000446	HP:0000446	Narrow nasal bridge	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	2
HP:0000446	HP:0000446	Narrow nasal bridge	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0000446	HP:0000446	Narrow nasal bridge	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000446	HP:0000446	Narrow nasal bridge	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0000446	HP:0000446	Narrow nasal bridge	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	173
HP:0000446	HP:0000446	Narrow nasal bridge	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000446	HP:0000446	Narrow nasal bridge	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000446	HP:0000446	Narrow nasal bridge	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000446	HP:0000446	Narrow nasal bridge	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000446	HP:0000446	Narrow nasal bridge	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000446	HP:0000446	Narrow nasal bridge	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0000446	HP:0000446	Narrow nasal bridge	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000446	HP:0000446	Narrow nasal bridge	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0000446	HP:0000446	Narrow nasal bridge	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000446	HP:0000446	Narrow nasal bridge	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000446	HP:0000446	Narrow nasal bridge	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000446	HP:0000446	Narrow nasal bridge	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000446	HP:0000446	Narrow nasal bridge	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0000446	HP:0000446	Narrow nasal bridge	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0000446	HP:0000446	Narrow nasal bridge	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	45
HP:0000446	HP:0000446	Narrow nasal bridge	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0000446	HP:0000446	Narrow nasal bridge	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000446	HP:0000446	Narrow nasal bridge	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000446	HP:0000446	Narrow nasal bridge	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0000446	HP:0000446	Narrow nasal bridge	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000446	HP:0000446	Narrow nasal bridge	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0000446	HP:0000446	Narrow nasal bridge	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000446	HP:0000446	Narrow nasal bridge	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	665
HP:0000446	HP:0000446	Narrow nasal bridge	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000446	HP:0000446	Narrow nasal bridge	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000446	HP:0000446	Narrow nasal bridge	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000446	HP:0000446	Narrow nasal bridge	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000446	HP:0000446	Narrow nasal bridge	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000446	HP:0000446	Narrow nasal bridge	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0000446	HP:0000446	Narrow nasal bridge	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	67
HP:0000446	HP:0000446	Narrow nasal bridge	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0000446	HP:0000446	Narrow nasal bridge	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0000446	HP:0000446	Narrow nasal bridge	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000446	HP:0000446	Narrow nasal bridge	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0000446	HP:0000446	Narrow nasal bridge	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000446	HP:0000446	Narrow nasal bridge	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000446	HP:0000446	Narrow nasal bridge	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000446	HP:0000446	Narrow nasal bridge	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000446	HP:0000446	Narrow nasal bridge	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	124
HP:0000446	HP:0000446	Narrow nasal bridge	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	1
HP:0000446	HP:0000446	Narrow nasal bridge	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0000446	HP:0000446	Narrow nasal bridge	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	34

Genes (52) :BMPR1B CDON COG4 COL3A1 CREBBP DISP1 DLL1 EP300 FGF8 FGFR1 FOXH1 GAS1 GDF5 GJA1 GLI2 HERC2 HNRNPR IPW KCNJ6 KCNK9 MAGEL2 MDM2 MED12 MKRN3 MKRN3-AS1 MMP2 NDP NFIB NODAL NONO NPAP1 PAX3 PORCN PPP1R21 PTCH1 PWAR1 PWRN1 RECQL4 RNF13 RNU4ATAC SHH SIM1 SIX3 SMARCA2 SNORD115-1 SNORD116-1 SNRPN SRCAP SUFU TDGF1 TGIF1 ZIC2

Diseases (34) :ORPHA:2639 ORPHA:280200 ORPHA:85172 OMIM:618150 ORPHA:286 OMIM:618332 OMIM:618333 OMIM:164200 ORPHA:2710 OMIM:176270 OMIM:620073 ORPHA:435628 ORPHA:166108 ORPHA:398069 OMIM:618681 OMIM:309520 OMIM:259600 ORPHA:649 OMIM:618286 ORPHA:466791 OMIM:300967 ORPHA:896 OMIM:305600 ORPHA:2092 OMIM:619383 ORPHA:1225 OMIM:618379 ORPHA:544503 ORPHA:353298 ORPHA:398079 OMIM:601358 ORPHA:3051 ORPHA:177907 ORPHA:2044

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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