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 bridge morphology (HP:0000422)

..Starting node
..Prominent nasal bridge (HP:0000426)

Term ID:

426

Name:

Prominent nasal bridge

Synonym:

Convex bridge of nose; Convex nasal bridge; Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge

Definition:

Anterior positioning of the nasal root in comparison to the usual positioning for age.

Comments:

Reference:

HP:0000426

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent nasal bridge (HP:0005285)

Depressed nasal bridge (HP:0005280)

Hypoplastic nasal bridge (HP:0005281)

Narrow nasal bridge (HP:0000446)

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:0000426	HP:0000426	Prominent nasal bridge	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0000426	HP:0000426	Prominent nasal bridge	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0000426	HP:0000426	Prominent nasal bridge	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe	.	59
HP:0000426	HP:0000426	Prominent nasal bridge	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0000426	HP:0000426	Prominent nasal bridge	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000426	HP:0000426	Prominent nasal bridge	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0000426	HP:0000426	Prominent nasal bridge	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0000426	HP:0000426	Prominent nasal bridge	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000426	HP:0000426	Prominent nasal bridge	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000426	HP:0000426	Prominent nasal bridge	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0000426	HP:0000426	Prominent nasal bridge	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	29
HP:0000426	HP:0000426	Prominent nasal bridge	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000426	HP:0000426	Prominent nasal bridge	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000426	HP:0000426	Prominent nasal bridge	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000426	HP:0000426	Prominent nasal bridge	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000426	HP:0000426	Prominent nasal bridge	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000426	HP:0000426	Prominent nasal bridge	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000426	HP:0000426	Prominent nasal bridge	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.	32
HP:0000426	HP:0000426	Prominent nasal bridge	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0000426	HP:0000426	Prominent nasal bridge	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	114
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	118
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	71
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	97
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	87
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	25
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	66
HP:0000426	HP:0000426	Prominent nasal bridge	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	119
HP:0000426	HP:0000426	Prominent nasal bridge	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000426	HP:0000426	Prominent nasal bridge	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0000426	HP:0000426	Prominent nasal bridge	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000426	HP:0000426	Prominent nasal bridge	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000426	HP:0000426	Prominent nasal bridge	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000426	HP:0000426	Prominent nasal bridge	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0000426	HP:0000426	Prominent nasal bridge	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0000426	HP:0000426	Prominent nasal bridge	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	247
HP:0000426	HP:0000426	Prominent nasal bridge	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000426	HP:0000426	Prominent nasal bridge	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000426	HP:0000426	Prominent nasal bridge	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	342
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	342
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0000426	HP:0000426	Prominent nasal bridge	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000426	HP:0000426	Prominent nasal bridge	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000426	HP:0000426	Prominent nasal bridge	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0000426	HP:0000426	Prominent nasal bridge	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0000426	HP:0000426	Prominent nasal bridge	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000426	HP:0000426	Prominent nasal bridge	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000426	HP:0000426	Prominent nasal bridge	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0000426	HP:0000426	Prominent nasal bridge	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0000426	HP:0000426	Prominent nasal bridge	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000426	HP:0000426	Prominent nasal bridge	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000426	HP:0000426	Prominent nasal bridge	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0000426	HP:0000426	Prominent nasal bridge	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0000426	HP:0000426	Prominent nasal bridge	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000426	HP:0000426	Prominent nasal bridge	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0000426	HP:0000426	Prominent nasal bridge	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000426	HP:0000426	Prominent nasal bridge	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000426	HP:0000426	Prominent nasal bridge	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	67
HP:0000426	HP:0000426	Prominent nasal bridge	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	55
HP:0000426	HP:0000426	Prominent nasal bridge	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000426	HP:0000426	Prominent nasal bridge	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0000426	HP:0000426	Prominent nasal bridge	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000426	HP:0000426	Prominent nasal bridge	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000426	HP:0000426	Prominent nasal bridge	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0000426	HP:0000426	Prominent nasal bridge	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000426	HP:0000426	Prominent nasal bridge	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000426	HP:0000426	Prominent nasal bridge	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000426	HP:0000426	Prominent nasal bridge	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000426	HP:0000426	Prominent nasal bridge	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0000426	HP:0000426	Prominent nasal bridge	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000426	HP:0000426	Prominent nasal bridge	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000426	HP:0000426	Prominent nasal bridge	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000426	HP:0000426	Prominent nasal bridge	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0000426	HP:0000426	Prominent nasal bridge	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000426	HP:0000426	Prominent nasal bridge	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000426	HP:0000426	Prominent nasal bridge	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000426	HP:0000426	Prominent nasal bridge	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0000426	HP:0000426	Prominent nasal bridge	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000426	HP:0000426	Prominent nasal bridge	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0000426	HP:0000426	Prominent nasal bridge	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0000426	HP:0000426	Prominent nasal bridge	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0000426	HP:0000426	Prominent nasal bridge	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	48
HP:0000426	HP:0000426	Prominent nasal bridge	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000426	HP:0000426	Prominent nasal bridge	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	3
HP:0000426	HP:0000426	Prominent nasal bridge	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent	5
HP:0000426	HP:0000426	Prominent nasal bridge	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000426	HP:0000426	Prominent nasal bridge	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0000426	HP:0000426	Prominent nasal bridge	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0000426	HP:0000426	Prominent nasal bridge	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0000426	HP:0000426	Prominent nasal bridge	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000426	HP:0000426	Prominent nasal bridge	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000426	HP:0000426	Prominent nasal bridge	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000426	HP:0000426	Prominent nasal bridge	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0000426	HP:0000426	Prominent nasal bridge	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000426	HP:0000426	Prominent nasal bridge	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000426	HP:0000426	Prominent nasal bridge	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0000426	HP:0000426	Prominent nasal bridge	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0000426	HP:0000426	Prominent nasal bridge	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000426	HP:0000426	Prominent nasal bridge	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000426	HP:0000426	Prominent nasal bridge	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0000426	HP:0000426	Prominent nasal bridge	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0000426	HP:0000426	Prominent nasal bridge	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0000426	HP:0000426	Prominent nasal bridge	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0000426	HP:0000426	Prominent nasal bridge	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000426	HP:0000426	Prominent nasal bridge	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0000426	HP:0000426	Prominent nasal bridge	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000426	HP:0000426	Prominent nasal bridge	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	4
HP:0000426	HP:0000426	Prominent nasal bridge	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000426	HP:0000426	Prominent nasal bridge	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000426	HP:0000426	Prominent nasal bridge	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000426	HP:0000426	Prominent nasal bridge	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0000426	HP:0000426	Prominent nasal bridge	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000426	HP:0000426	Prominent nasal bridge	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0000426	HP:0000426	Prominent nasal bridge	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000426	HP:0000426	Prominent nasal bridge	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000426	HP:0000426	Prominent nasal bridge	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	91
HP:0000426	HP:0000426	Prominent nasal bridge	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	69
HP:0000426	HP:0000426	Prominent nasal bridge	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	127
HP:0000426	HP:0000426	Prominent nasal bridge	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0000426	HP:0000426	Prominent nasal bridge	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0000426	HP:0000426	Prominent nasal bridge	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0000426	HP:0000426	Prominent nasal bridge	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000426	HP:0000426	Prominent nasal bridge	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0000426	HP:0000426	Prominent nasal bridge	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000426	HP:0000426	Prominent nasal bridge	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0000426	HP:0000426	Prominent nasal bridge	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent	88
HP:0000426	HP:0000426	Prominent nasal bridge	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0000426	HP:0000426	Prominent 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:0000426	HP:0000426	Prominent nasal bridge	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	85
HP:0000426	HP:0000426	Prominent nasal bridge	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0000426	HP:0000426	Prominent nasal bridge	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000426	HP:0000426	Prominent nasal bridge	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000426	HP:0000426	Prominent nasal bridge	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0000426	HP:0000426	Prominent nasal bridge	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0000426	HP:0000426	Prominent nasal bridge	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000426	HP:0000426	Prominent nasal bridge	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0000426	HP:0000426	Prominent nasal bridge	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000426	HP:0000426	Prominent nasal bridge	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000426	HP:0000426	Prominent nasal bridge	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0000426	HP:0000426	Prominent nasal bridge	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000426	HP:0000426	Prominent nasal bridge	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000426	HP:0000426	Prominent nasal bridge	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0000426	HP:0000426	Prominent nasal bridge	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000426	HP:0000426	Prominent nasal bridge	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000426	HP:0000426	Prominent nasal bridge	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0000426	HP:0000426	Prominent nasal bridge	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000426	HP:0000426	Prominent nasal bridge	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000426	HP:0000426	Prominent nasal bridge	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000426	HP:0000426	Prominent nasal bridge	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000426	HP:0000426	Prominent nasal bridge	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000426	HP:0000426	Prominent nasal bridge	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040282 - Frequent	8
HP:0000426	HP:0000426	Prominent nasal bridge	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000426	HP:0000426	Prominent nasal bridge	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000426	HP:0000426	Prominent nasal bridge	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0000426	HP:0000426	Prominent nasal bridge	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0000426	HP:0000426	Prominent nasal bridge	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent	365
HP:0000426	HP:0000426	Prominent nasal bridge	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000426	HP:0000426	Prominent nasal bridge	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000426	HP:0000426	Prominent nasal bridge	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2	.	334
HP:0000426	HP:0000426	Prominent nasal bridge	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0000426	HP:0000426	Prominent nasal bridge	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0000426	HP:0000426	Prominent nasal bridge	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000426	HP:0000426	Prominent nasal bridge	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000426	HP:0000426	Prominent nasal bridge	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0000426	HP:0000426	Prominent nasal bridge	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000426	HP:0000426	Prominent nasal bridge	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	61
HP:0000426	HP:0000426	Prominent nasal bridge	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0000426	HP:0000426	Prominent nasal bridge	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000426	HP:0000426	Prominent nasal bridge	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000426	HP:0000426	Prominent nasal bridge	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent	49
HP:0000426	HP:0000426	Prominent nasal bridge	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000426	HP:0000426	Prominent nasal bridge	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0000426	HP:0000426	Prominent nasal bridge	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0000426	HP:0000426	Prominent nasal bridge	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000426	HP:0000426	Prominent nasal bridge	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000426	HP:0000426	Prominent nasal bridge	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000426	HP:0000426	Prominent nasal bridge	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000426	HP:0000426	Prominent nasal bridge	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000426	HP:0000426	Prominent nasal bridge	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent	94
HP:0000426	HP:0000426	Prominent nasal bridge	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent	61
HP:0000426	HP:0000426	Prominent nasal bridge	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	61
HP:0000426	HP:0000426	Prominent nasal bridge	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000426	HP:0000426	Prominent nasal bridge	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040281 - Very frequent	6
HP:0000426	HP:0000426	Prominent nasal bridge	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000426	HP:0000426	Prominent nasal bridge	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000426	HP:0000426	Prominent nasal bridge	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000426	HP:0000426	Prominent nasal bridge	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000426	HP:0000426	Prominent nasal bridge	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0000426	HP:0000426	Prominent nasal bridge	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000426	HP:0000426	Prominent nasal bridge	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0000426	HP:0000426	Prominent nasal bridge	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent	9
HP:0000426	HP:0000426	Prominent nasal bridge	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0000426	HP:0000426	Prominent nasal bridge	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000426	HP:0000426	Prominent nasal bridge	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000426	HP:0000426	Prominent nasal bridge	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000426	HP:0000426	Prominent nasal bridge	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000426	HP:0000426	Prominent nasal bridge	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000426	HP:0000426	Prominent nasal bridge	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0000426	HP:0000426	Prominent nasal bridge	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0000426	HP:0000426	Prominent nasal bridge	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0000426	HP:0000426	Prominent nasal bridge	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000426	HP:0000426	Prominent nasal bridge	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	39
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	45
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	33
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	82
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0000426	HP:0000426	Prominent nasal bridge	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0000426	HP:0000426	Prominent nasal bridge	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000426	HP:0000426	Prominent nasal bridge	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000426	HP:0000426	Prominent nasal bridge	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0000426	HP:0000426	Prominent nasal bridge	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040283 - Occasional	140
HP:0000426	HP:0000426	Prominent nasal bridge	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	108
HP:0000426	HP:0000426	Prominent nasal bridge	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000426	HP:0000426	Prominent nasal bridge	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000426	HP:0000426	Prominent nasal bridge	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	41
HP:0000426	HP:0000426	Prominent nasal bridge	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000426	HP:0000426	Prominent nasal bridge	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000426	HP:0000426	Prominent nasal bridge	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040282 - Frequent	19
HP:0000426	HP:0000426	Prominent nasal bridge	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000426	HP:0000426	Prominent nasal bridge	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000426	HP:0000426	Prominent nasal bridge	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0000426	HP:0000426	Prominent nasal bridge	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0000426	HP:0000426	Prominent nasal bridge	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000426	HP:0000426	Prominent nasal bridge	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0000426	HP:0000426	Prominent nasal bridge	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0000426	HP:0000426	Prominent nasal bridge	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	60
HP:0000426	HP:0000426	Prominent nasal bridge	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000426	HP:0000426	Prominent nasal bridge	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000426	HP:0000426	Prominent nasal bridge	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0000426	HP:0000426	Prominent nasal bridge	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000426	HP:0000426	Prominent nasal bridge	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0000426	HP:0000426	Prominent nasal bridge	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	49
HP:0000426	HP:0000426	Prominent nasal bridge	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000426	HP:0000426	Prominent nasal bridge	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (225) :ACTG2 AFF2 AHI1 ALG12 ALX4 ANKRD11 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASH1L ASPH ASXL3 ATIC ATPAF2 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCR BICRA BRCA1 CASK CBY1 CC2D2A CDC42BPB CDK13 CENPF CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CFAP418 CHD5 CKAP2L CLIC2 COLEC11 COMT COX4I1 CPLANE1 CRKL CSPP1 DCAF17 DHPS DOCK7 DYRK1A EBF3 EBP ECE1 EDN3 EDNRB ERCC1 ERCC6 EXOSC5 EXT2 FAM149B1 FBN1 FGFR2 FGFR3 GALNT2 GATA4 GJA5 GJA8 GP1BB GPC4 H4C9 HDAC8 HERC1 HIRA HIVEP2 HMGA2 HSPG2 HYLS1 IFT172 IFT27 IFT57 IFT74 IGBP1 INPP5E INSR IPO8 JMJD1C KANSL1 KAT6A KAT6B KAT8 KATNIP KDM5B KDM5C KIAA0586 KIAA0753 KIF7 KIFBP LEMD3 LMNB1 LZTFL1 MAPK1 MAPK8IP3 MECP2 MED12 MED12L MED13 MEIS2 MGAT2 MIA3 MITF MKKS MKS1 NALCN NBN NDE1 NEXMIF NFASC NHS NONO NPHP1 NR2F1 NSDHL NSUN2 OFD1 ORC6 OTUD6B PAK3 PAX3 PCDHGC4 PCNT PDE6D PDGFRB PGAP2 PGAP3 PHF21A PIBF1 PIGL PIGO PIGV PIGW PIGY PMM2 POLR1A PRKD1 RAB3GAP2 RAC1 RARS2 RB1 RECQL4 RELN RLIM RPGRIP1L RREB1 RTTN SATB2 SCAPER SCUBE3 SDCCAG8 SEC23A SEC24C SF3B4 SH2B1 SIN3A SMAD4 SMC1A SMC3 SMS SNAP29 SOX10 SOX18 SPECC1L SPEN SPOP SPRED2 SPRTN SRCAP STAG1 SUFU TAF6 TBC1D20 TBCK TBX1 TCF4 TCTN1 TCTN2 TCTN3 TGFB3 TLK2 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNPO2 TOGARAM1 TOPORS TP63 TRIM32 TRIO TRRAP TTC8 TWIST1 TXNL4A UFD1 UNC80 UPF3B VPS13B WDPCP WDR37 XRCC4 ZDHHC9 ZMIZ1 ZNF335 ZNF423 ZNF526 ZNF699

Diseases (176) :ORPHA:2604 ORPHA:100973 OMIM:309548 ORPHA:475 ORPHA:220493 ORPHA:79324 ORPHA:52022 ORPHA:2332 OMIM:148050 ORPHA:110 ORPHA:567 OMIM:300215 OMIM:617796 OMIM:601552 ORPHA:352577 OMIM:615485 OMIM:608688 OMIM:604273 OMIM:300166 ORPHA:2712 ORPHA:261330 OMIM:619325 OMIM:617883 OMIM:300749 ORPHA:1454 ORPHA:2318 OMIM:619841 OMIM:617360 OMIM:243605 OMIM:613823 OMIM:619873 ORPHA:3255 ORPHA:324410 OMIM:265050 OMIM:619060 ORPHA:2754 OMIM:241080 OMIM:618480 ORPHA:411986 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:300960 ORPHA:401973 OMIM:613870 ORPHA:897 OMIM:610758 OMIM:214150 OMIM:133540 OMIM:619576 OMIM:616914 ORPHA:794 OMIM:618885 ORPHA:251071 OMIM:612474 ORPHA:2662 OMIM:619951 OMIM:300882 OMIM:617011 ORPHA:457359 OMIM:616977 ORPHA:94063 ORPHA:800 OMIM:617927 ORPHA:52055 OMIM:300472 ORPHA:769 OMIM:619472 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616268 ORPHA:457193 ORPHA:85201 OMIM:606170 OMIM:618974 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:609460 OMIM:619179 OMIM:618443 OMIM:300260 OMIM:309520 ORPHA:776 OMIM:618872 OMIM:618009 ORPHA:261190 OMIM:212066 OMIM:619269 ORPHA:371364 ORPHA:647 OMIM:605013 OMIM:300912 OMIM:618356 ORPHA:627 OMIM:302350 ORPHA:466791 ORPHA:220497 OMIM:615722 ORPHA:401777 OMIM:300831 ORPHA:251383 OMIM:611091 OMIM:613803 ORPHA:505237 OMIM:617452 OMIM:300558 OMIM:148820 OMIM:619880 OMIM:210720 OMIM:601812 ORPHA:247262 ORPHA:79318 ORPHA:1200 OMIM:617364 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:611523 ORPHA:1587 OMIM:218600 ORPHA:1225 OMIM:257320 OMIM:300978 ORPHA:468631 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:619184 ORPHA:50814 OMIM:607812 OMIM:154400 ORPHA:1788 ORPHA:261222 ORPHA:94065 OMIM:613406 OMIM:139210 OMIM:300590 OMIM:610759 OMIM:309583 ORPHA:3063 ORPHA:66631 ORPHA:163746 OMIM:137940 ORPHA:1519 OMIM:619312 OMIM:618828 OMIM:618829 OMIM:619745 OMIM:616200 OMIM:136140 OMIM:617635 ORPHA:502434 OMIM:617126 OMIM:615663 OMIM:616900 ORPHA:2896 OMIM:615582 OMIM:618050 OMIM:614424 OMIM:619556 ORPHA:978 OMIM:618825 OMIM:618454 OMIM:608572 OMIM:616801 OMIM:300676 OMIM:216550 ORPHA:193 OMIM:618652 OMIM:616541 OMIM:618659 OMIM:615095 OMIM:619877 OMIM:619488

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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