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
..Wide nasal bridge (HP:0000431)

Term ID:

431

Name:

Wide nasal bridge

Synonym:

Broad flat nasal bridge; Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge

Definition:

Increased breadth of the nasal bridge (and with it, the nasal root).

Comments:

Reference:

HP:0000431

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)

Prominent nasal bridge (HP:0000426)

Short nasal bridge (HP:0003194)

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:0000431	HP:0000431	Wide nasal bridge	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0000431	HP:0000431	Wide nasal bridge	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000431	HP:0000431	Wide nasal bridge	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0000431	HP:0000431	Wide nasal bridge	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000431	HP:0000431	Wide nasal bridge	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000431	HP:0000431	Wide nasal bridge	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000431	HP:0000431	Wide nasal bridge	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000431	HP:0000431	Wide nasal bridge	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.	13
HP:0000431	HP:0000431	Wide nasal bridge	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000431	HP:0000431	Wide nasal bridge	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000431	HP:0000431	Wide nasal bridge	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0000431	HP:0000431	Wide nasal bridge	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000431	HP:0000431	Wide nasal bridge	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0000431	HP:0000431	Wide nasal bridge	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0000431	HP:0000431	Wide nasal bridge	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0000431	HP:0000431	Wide nasal bridge	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000431	HP:0000431	Wide nasal bridge	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000431	HP:0000431	Wide nasal bridge	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000431	HP:0000431	Wide nasal bridge	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000431	HP:0000431	Wide nasal bridge	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0000431	HP:0000431	Wide nasal bridge	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0000431	HP:0000431	Wide nasal bridge	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000431	HP:0000431	Wide nasal bridge	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0000431	HP:0000431	Wide nasal bridge	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent	164
HP:0000431	HP:0000431	Wide nasal bridge	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000431	HP:0000431	Wide nasal bridge	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000431	HP:0000431	Wide nasal bridge	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	HP:0040283 - Occasional	49
HP:0000431	HP:0000431	Wide nasal bridge	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000431	HP:0000431	Wide nasal bridge	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0000431	HP:0000431	Wide nasal bridge	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0000431	HP:0000431	Wide nasal bridge	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0000431	HP:0000431	Wide nasal bridge	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0000431	HP:0000431	Wide nasal bridge	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000431	HP:0000431	Wide nasal bridge	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000431	HP:0000431	Wide nasal bridge	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0000431	HP:0000431	Wide nasal bridge	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000431	HP:0000431	Wide nasal bridge	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000431	HP:0000431	Wide nasal bridge	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0000431	HP:0000431	Wide nasal bridge	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000431	HP:0000431	Wide nasal bridge	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000431	HP:0000431	Wide nasal bridge	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0000431	HP:0000431	Wide nasal bridge	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000431	HP:0000431	Wide nasal bridge	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0000431	HP:0000431	Wide nasal bridge	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000431	HP:0000431	Wide nasal bridge	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0000431	HP:0000431	Wide nasal bridge	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	29
HP:0000431	HP:0000431	Wide nasal bridge	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0000431	HP:0000431	Wide nasal bridge	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0000431	HP:0000431	Wide nasal bridge	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0000431	HP:0000431	Wide nasal bridge	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0000431	HP:0000431	Wide nasal bridge	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0000431	HP:0000431	Wide nasal bridge	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0000431	HP:0000431	Wide nasal bridge	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0000431	HP:0000431	Wide nasal bridge	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0000431	HP:0000431	Wide nasal bridge	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000431	HP:0000431	Wide nasal bridge	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000431	HP:0000431	Wide nasal bridge	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0000431	HP:0000431	Wide nasal bridge	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0000431	HP:0000431	Wide nasal bridge	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000431	HP:0000431	Wide nasal bridge	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent	118
HP:0000431	HP:0000431	Wide nasal bridge	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000431	HP:0000431	Wide nasal bridge	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0000431	HP:0000431	Wide nasal bridge	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0000431	HP:0000431	Wide nasal bridge	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000431	HP:0000431	Wide nasal bridge	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000431	HP:0000431	Wide nasal bridge	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000431	HP:0000431	Wide nasal bridge	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000431	HP:0000431	Wide nasal bridge	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000431	HP:0000431	Wide nasal bridge	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000431	HP:0000431	Wide nasal bridge	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0000431	HP:0000431	Wide nasal bridge	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000431	HP:0000431	Wide nasal bridge	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000431	HP:0000431	Wide nasal bridge	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000431	HP:0000431	Wide nasal bridge	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0000431	HP:0000431	Wide nasal bridge	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0000431	HP:0000431	Wide nasal bridge	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0000431	HP:0000431	Wide nasal bridge	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000431	HP:0000431	Wide nasal bridge	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000431	HP:0000431	Wide nasal bridge	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000431	HP:0000431	Wide nasal bridge	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0000431	HP:0000431	Wide nasal bridge	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0000431	HP:0000431	Wide nasal bridge	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0000431	HP:0000431	Wide nasal bridge	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000431	HP:0000431	Wide nasal bridge	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0000431	HP:0000431	Wide nasal bridge	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0000431	HP:0000431	Wide nasal bridge	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0000431	HP:0000431	Wide nasal bridge	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0000431	HP:0000431	Wide nasal bridge	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000431	HP:0000431	Wide nasal bridge	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0000431	HP:0000431	Wide nasal bridge	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0000431	HP:0000431	Wide nasal bridge	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0000431	HP:0000431	Wide nasal bridge	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000431	HP:0000431	Wide nasal bridge	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0000431	HP:0000431	Wide nasal bridge	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000431	HP:0000431	Wide nasal bridge	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0000431	HP:0000431	Wide nasal bridge	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0000431	HP:0000431	Wide nasal bridge	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000431	HP:0000431	Wide nasal bridge	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0000431	HP:0000431	Wide nasal bridge	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0000431	HP:0000431	Wide nasal bridge	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0000431	HP:0000431	Wide nasal bridge	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000431	HP:0000431	Wide nasal bridge	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000431	HP:0000431	Wide nasal bridge	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0000431	HP:0000431	Wide nasal bridge	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0000431	HP:0000431	Wide nasal bridge	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000431	HP:0000431	Wide nasal bridge	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000431	HP:0000431	Wide nasal bridge	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0000431	HP:0000431	Wide nasal bridge	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0000431	HP:0000431	Wide nasal bridge	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000431	HP:0000431	Wide nasal bridge	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000431	HP:0000431	Wide nasal bridge	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000431	HP:0000431	Wide nasal bridge	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0000431	HP:0000431	Wide nasal bridge	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000431	HP:0000431	Wide nasal bridge	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0000431	HP:0000431	Wide nasal bridge	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000431	HP:0000431	Wide nasal bridge	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000431	HP:0000431	Wide nasal bridge	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	67
HP:0000431	HP:0000431	Wide nasal bridge	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000431	HP:0000431	Wide nasal bridge	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	55
HP:0000431	HP:0000431	Wide nasal bridge	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0000431	HP:0000431	Wide nasal bridge	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0000431	HP:0000431	Wide nasal bridge	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000431	HP:0000431	Wide nasal bridge	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000431	HP:0000431	Wide nasal bridge	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000431	HP:0000431	Wide nasal bridge	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0000431	HP:0000431	Wide nasal bridge	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0000431	HP:0000431	Wide nasal bridge	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0000431	HP:0000431	Wide nasal bridge	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0000431	HP:0000431	Wide nasal bridge	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000431	HP:0000431	Wide nasal bridge	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000431	HP:0000431	Wide nasal bridge	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0000431	HP:0000431	Wide nasal bridge	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0000431	HP:0000431	Wide nasal bridge	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0000431	HP:0000431	Wide nasal bridge	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0000431	HP:0000431	Wide nasal bridge	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0000431	HP:0000431	Wide nasal bridge	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0000431	HP:0000431	Wide nasal bridge	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000431	HP:0000431	Wide nasal bridge	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0000431	HP:0000431	Wide nasal bridge	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0000431	HP:0000431	Wide nasal bridge	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.	8
HP:0000431	HP:0000431	Wide nasal bridge	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000431	HP:0000431	Wide nasal bridge	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000431	HP:0000431	Wide nasal bridge	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040282 - Frequent	18
HP:0000431	HP:0000431	Wide nasal bridge	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	172
HP:0000431	HP:0000431	Wide nasal bridge	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0000431	HP:0000431	Wide nasal bridge	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000431	HP:0000431	Wide nasal bridge	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0000431	HP:0000431	Wide nasal bridge	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	493
HP:0000431	HP:0000431	Wide nasal bridge	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000431	HP:0000431	Wide nasal bridge	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0000431	HP:0000431	Wide nasal bridge	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000431	HP:0000431	Wide nasal bridge	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0000431	HP:0000431	Wide nasal bridge	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0000431	HP:0000431	Wide nasal bridge	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000431	HP:0000431	Wide nasal bridge	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0000431	HP:0000431	Wide nasal bridge	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000431	HP:0000431	Wide nasal bridge	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000431	HP:0000431	Wide nasal bridge	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	198
HP:0000431	HP:0000431	Wide nasal bridge	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000431	HP:0000431	Wide nasal bridge	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000431	HP:0000431	Wide nasal bridge	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0000431	HP:0000431	Wide nasal bridge	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.	3
HP:0000431	HP:0000431	Wide nasal bridge	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0000431	HP:0000431	Wide nasal bridge	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0000431	HP:0000431	Wide nasal bridge	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000431	HP:0000431	Wide nasal bridge	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0000431	HP:0000431	Wide nasal bridge	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0000431	HP:0000431	Wide nasal bridge	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0000431	HP:0000431	Wide nasal bridge	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent	68
HP:0000431	HP:0000431	Wide nasal bridge	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000431	HP:0000431	Wide nasal bridge	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040282 - Frequent	270
HP:0000431	HP:0000431	Wide nasal bridge	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000431	HP:0000431	Wide nasal bridge	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000431	HP:0000431	Wide nasal bridge	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0000431	HP:0000431	Wide nasal bridge	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0000431	HP:0000431	Wide nasal bridge	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0000431	HP:0000431	Wide nasal bridge	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000431	HP:0000431	Wide nasal bridge	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000431	HP:0000431	Wide nasal bridge	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0000431	HP:0000431	Wide nasal bridge	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0000431	HP:0000431	Wide nasal bridge	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0000431	HP:0000431	Wide nasal bridge	0	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7	.
HP:0000431	HP:0000431	Wide nasal bridge	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000431	HP:0000431	Wide nasal bridge	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0000431	HP:0000431	Wide nasal bridge	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000431	HP:0000431	Wide nasal bridge	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000431	HP:0000431	Wide nasal bridge	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000431	HP:0000431	Wide nasal bridge	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	11
HP:0000431	HP:0000431	Wide nasal bridge	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0000431	HP:0000431	Wide nasal bridge	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0000431	HP:0000431	Wide nasal bridge	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0000431	HP:0000431	Wide nasal bridge	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0000431	HP:0000431	Wide nasal bridge	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000431	HP:0000431	Wide nasal bridge	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000431	HP:0000431	Wide nasal bridge	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0000431	HP:0000431	Wide nasal bridge	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000431	HP:0000431	Wide nasal bridge	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0000431	HP:0000431	Wide nasal bridge	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0000431	HP:0000431	Wide nasal bridge	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000431	HP:0000431	Wide nasal bridge	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0000431	HP:0000431	Wide nasal bridge	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0000431	HP:0000431	Wide nasal bridge	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0000431	HP:0000431	Wide nasal bridge	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000431	HP:0000431	Wide nasal bridge	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0000431	HP:0000431	Wide nasal bridge	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000431	HP:0000431	Wide nasal bridge	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0000431	HP:0000431	Wide nasal bridge	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0000431	HP:0000431	Wide nasal bridge	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000431	HP:0000431	Wide nasal bridge	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0000431	HP:0000431	Wide nasal bridge	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000431	HP:0000431	Wide nasal bridge	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000431	HP:0000431	Wide 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:0000431	HP:0000431	Wide nasal bridge	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000431	HP:0000431	Wide nasal bridge	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000431	HP:0000431	Wide nasal bridge	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000431	HP:0000431	Wide nasal bridge	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000431	HP:0000431	Wide nasal bridge	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000431	HP:0000431	Wide nasal bridge	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000431	HP:0000431	Wide nasal bridge	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0000431	HP:0000431	Wide nasal bridge	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000431	HP:0000431	Wide nasal bridge	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000431	HP:0000431	Wide nasal bridge	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0000431	HP:0000431	Wide nasal bridge	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000431	HP:0000431	Wide nasal bridge	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000431	HP:0000431	Wide nasal bridge	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0000431	HP:0000431	Wide nasal bridge	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0000431	HP:0000431	Wide nasal bridge	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000431	HP:0000431	Wide nasal bridge	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	327
HP:0000431	HP:0000431	Wide nasal bridge	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0000431	HP:0000431	Wide nasal bridge	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0000431	HP:0000431	Wide nasal bridge	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000431	HP:0000431	Wide nasal bridge	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000431	HP:0000431	Wide nasal bridge	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0000431	HP:0000431	Wide nasal bridge	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0000431	HP:0000431	Wide nasal bridge	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	HP:0040283 - Occasional	196
HP:0000431	HP:0000431	Wide nasal bridge	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	HP:0040283 - Occasional	1
HP:0000431	HP:0000431	Wide nasal bridge	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000431	HP:0000431	Wide nasal bridge	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000431	HP:0000431	Wide nasal bridge	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0000431	HP:0000431	Wide nasal bridge	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0000431	HP:0000431	Wide nasal bridge	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000431	HP:0000431	Wide nasal bridge	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0000431	HP:0000431	Wide nasal bridge	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0000431	HP:0000431	Wide nasal bridge	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000431	HP:0000431	Wide nasal bridge	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0000431	HP:0000431	Wide nasal bridge	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0000431	HP:0000431	Wide nasal bridge	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0000431	HP:0000431	Wide nasal bridge	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000431	HP:0000431	Wide nasal bridge	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040283 - Occasional	63
HP:0000431	HP:0000431	Wide nasal bridge	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0000431	HP:0000431	Wide nasal bridge	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000431	HP:0000431	Wide nasal bridge	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000431	HP:0000431	Wide nasal bridge	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000431	HP:0000431	Wide nasal bridge	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	11
HP:0000431	HP:0000431	Wide nasal bridge	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000431	HP:0000431	Wide nasal bridge	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000431	HP:0000431	Wide nasal bridge	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000431	HP:0000431	Wide nasal bridge	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0000431	HP:0000431	Wide nasal bridge	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000431	HP:0000431	Wide nasal bridge	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0000431	HP:0000431	Wide nasal bridge	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0000431	HP:0000431	Wide nasal bridge	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0000431	HP:0000431	Wide nasal bridge	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000431	HP:0000431	Wide nasal bridge	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0000431	HP:0000431	Wide nasal bridge	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0000431	HP:0000431	Wide nasal bridge	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040281 - Very frequent	57
HP:0000431	HP:0000431	Wide nasal bridge	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0000431	HP:0000431	Wide nasal bridge	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0000431	HP:0000431	Wide nasal bridge	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	91
HP:0000431	HP:0000431	Wide nasal bridge	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0000431	HP:0000431	Wide nasal bridge	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000431	HP:0000431	Wide nasal bridge	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000431	HP:0000431	Wide nasal bridge	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0000431	HP:0000431	Wide nasal bridge	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	166
HP:0000431	HP:0000431	Wide nasal bridge	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000431	HP:0000431	Wide nasal bridge	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0000431	HP:0000431	Wide nasal bridge	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000431	HP:0000431	Wide nasal bridge	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0000431	HP:0000431	Wide nasal bridge	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0000431	HP:0000431	Wide nasal bridge	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0000431	HP:0000431	Wide nasal bridge	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	48
HP:0000431	HP:0000431	Wide nasal bridge	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000431	HP:0000431	Wide nasal bridge	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0000431	HP:0000431	Wide nasal bridge	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000431	HP:0000431	Wide nasal bridge	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	3
HP:0000431	HP:0000431	Wide nasal bridge	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0000431	HP:0000431	Wide nasal bridge	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000431	HP:0000431	Wide nasal bridge	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0000431	HP:0000431	Wide nasal bridge	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0000431	HP:0000431	Wide nasal bridge	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0000431	HP:0000431	Wide nasal bridge	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000431	HP:0000431	Wide nasal bridge	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000431	HP:0000431	Wide nasal bridge	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0000431	HP:0000431	Wide nasal bridge	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.	102
HP:0000431	HP:0000431	Wide nasal bridge	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000431	HP:0000431	Wide nasal bridge	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000431	HP:0000431	Wide nasal bridge	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000431	HP:0000431	Wide nasal bridge	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000431	HP:0000431	Wide nasal bridge	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0000431	HP:0000431	Wide nasal bridge	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0000431	HP:0000431	Wide nasal bridge	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000431	HP:0000431	Wide nasal bridge	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000431	HP:0000431	Wide nasal bridge	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000431	HP:0000431	Wide nasal bridge	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000431	HP:0000431	Wide nasal bridge	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent	201
HP:0000431	HP:0000431	Wide nasal bridge	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0000431	HP:0000431	Wide nasal bridge	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0000431	HP:0000431	Wide 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:0000431	HP:0000431	Wide nasal bridge	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000431	HP:0000431	Wide nasal bridge	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0000431	HP:0000431	Wide nasal bridge	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000431	HP:0000431	Wide nasal bridge	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000431	HP:0000431	Wide nasal bridge	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent	59
HP:0000431	HP:0000431	Wide nasal bridge	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0000431	HP:0000431	Wide nasal bridge	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0000431	HP:0000431	Wide nasal bridge	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000431	HP:0000431	Wide nasal bridge	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0000431	HP:0000431	Wide nasal bridge	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0000431	HP:0000431	Wide nasal bridge	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0000431	HP:0000431	Wide nasal bridge	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0000431	HP:0000431	Wide nasal bridge	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0000431	HP:0000431	Wide nasal bridge	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000431	HP:0000431	Wide nasal bridge	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0000431	HP:0000431	Wide nasal bridge	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0000431	HP:0000431	Wide nasal bridge	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0000431	HP:0000431	Wide nasal bridge	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0000431	HP:0000431	Wide nasal bridge	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0000431	HP:0000431	Wide nasal bridge	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0000431	HP:0000431	Wide nasal bridge	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	20
HP:0000431	HP:0000431	Wide nasal bridge	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	36
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	84
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	57
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.	6
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000431	HP:0000431	Wide nasal bridge	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000431	HP:0000431	Wide nasal bridge	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000431	HP:0000431	Wide nasal bridge	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0000431	HP:0000431	Wide nasal bridge	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000431	HP:0000431	Wide nasal bridge	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0000431	HP:0000431	Wide nasal bridge	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0000431	HP:0000431	Wide nasal bridge	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0000431	HP:0000431	Wide nasal bridge	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000431	HP:0000431	Wide nasal bridge	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0000431	HP:0000431	Wide nasal bridge	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional	8
HP:0000431	HP:0000431	Wide nasal bridge	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0000431	HP:0000431	Wide nasal bridge	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0000431	HP:0000431	Wide nasal bridge	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0000431	HP:0000431	Wide nasal bridge	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000431	HP:0000431	Wide nasal bridge	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0000431	HP:0000431	Wide nasal bridge	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0000431	HP:0000431	Wide nasal bridge	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0000431	HP:0000431	Wide nasal bridge	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0000431	HP:0000431	Wide nasal bridge	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0000431	HP:0000431	Wide nasal bridge	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0000431	HP:0000431	Wide nasal bridge	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000431	HP:0000431	Wide nasal bridge	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0000431	HP:0000431	Wide nasal bridge	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0000431	HP:0000431	Wide nasal bridge	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000431	HP:0000431	Wide nasal bridge	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0000431	HP:0000431	Wide nasal bridge	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000431	HP:0000431	Wide nasal bridge	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0000431	HP:0000431	Wide nasal bridge	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0000431	HP:0000431	Wide nasal bridge	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0000431	HP:0000431	Wide nasal bridge	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0000431	HP:0000431	Wide nasal bridge	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	665
HP:0000431	HP:0000431	Wide nasal bridge	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0000431	HP:0000431	Wide nasal bridge	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	40
HP:0000431	HP:0000431	Wide nasal bridge	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0000431	HP:0000431	Wide nasal bridge	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000431	HP:0000431	Wide nasal bridge	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent	19
HP:0000431	HP:0000431	Wide nasal bridge	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0000431	HP:0000431	Wide nasal bridge	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0000431	HP:0000431	Wide nasal bridge	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000431	HP:0000431	Wide nasal bridge	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000431	HP:0000431	Wide nasal bridge	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0000431	HP:0000431	Wide nasal bridge	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0000431	HP:0000431	Wide nasal bridge	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000431	HP:0000431	Wide nasal bridge	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0000431	HP:0000431	Wide nasal bridge	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000431	HP:0000431	Wide nasal bridge	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.	25
HP:0000431	HP:0000431	Wide nasal bridge	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0000431	HP:0000431	Wide nasal bridge	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000431	HP:0000431	Wide nasal bridge	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0000431	HP:0000431	Wide nasal bridge	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000431	HP:0000431	Wide nasal bridge	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000431	HP:0000431	Wide nasal bridge	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000431	HP:0000431	Wide nasal bridge	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent	365
HP:0000431	HP:0000431	Wide nasal bridge	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000431	HP:0000431	Wide nasal bridge	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0000431	HP:0000431	Wide nasal bridge	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000431	HP:0000431	Wide nasal bridge	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0000431	HP:0000431	Wide nasal bridge	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000431	HP:0000431	Wide nasal bridge	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000431	HP:0000431	Wide nasal bridge	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000431	HP:0000431	Wide nasal bridge	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0000431	HP:0000431	Wide nasal bridge	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000431	HP:0000431	Wide nasal bridge	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0000431	HP:0000431	Wide nasal bridge	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000431	HP:0000431	Wide nasal bridge	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0000431	HP:0000431	Wide nasal bridge	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000431	HP:0000431	Wide nasal bridge	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000431	HP:0000431	Wide nasal bridge	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0000431	HP:0000431	Wide nasal bridge	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0000431	HP:0000431	Wide nasal bridge	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0000431	HP:0000431	Wide nasal bridge	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000431	HP:0000431	Wide nasal bridge	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0000431	HP:0000431	Wide nasal bridge	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0000431	HP:0000431	Wide nasal bridge	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000431	HP:0000431	Wide nasal bridge	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000431	HP:0000431	Wide nasal bridge	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0000431	HP:0000431	Wide nasal bridge	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0000431	HP:0000431	Wide nasal bridge	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000431	HP:0000431	Wide nasal bridge	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0000431	HP:0000431	Wide nasal bridge	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.	2
HP:0000431	HP:0000431	Wide nasal bridge	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000431	HP:0000431	Wide 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:0000431	HP:0000431	Wide nasal bridge	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000431	HP:0000431	Wide nasal bridge	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0000431	HP:0000431	Wide nasal bridge	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0000431	HP:0000431	Wide nasal bridge	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000431	HP:0000431	Wide nasal bridge	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000431	HP:0000431	Wide nasal bridge	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0000431	HP:0000431	Wide nasal bridge	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000431	HP:0000431	Wide nasal bridge	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000431	HP:0000431	Wide nasal bridge	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000431	HP:0000431	Wide nasal bridge	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent	43
HP:0000431	HP:0000431	Wide nasal bridge	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000431	HP:0000431	Wide nasal bridge	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0000431	HP:0000431	Wide nasal bridge	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000431	HP:0000431	Wide nasal bridge	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000431	HP:0000431	Wide nasal bridge	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0000431	HP:0000431	Wide nasal bridge	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000431	HP:0000431	Wide nasal bridge	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0000431	HP:0000431	Wide nasal bridge	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0000431	HP:0000431	Wide nasal bridge	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0000431	HP:0000431	Wide nasal bridge	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000431	HP:0000431	Wide nasal bridge	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0000431	HP:0000431	Wide nasal bridge	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000431	HP:0000431	Wide nasal bridge	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000431	HP:0000431	Wide nasal bridge	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	19
HP:0000431	HP:0000431	Wide nasal bridge	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000431	HP:0000431	Wide nasal bridge	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0000431	HP:0000431	Wide nasal bridge	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0000431	HP:0000431	Wide nasal bridge	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000431	HP:0000431	Wide nasal bridge	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.	12
HP:0000431	HP:0000431	Wide nasal bridge	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent	26
HP:0000431	HP:0000431	Wide nasal bridge	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0000431	HP:0000431	Wide nasal bridge	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0000431	HP:0000431	Wide 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:0000431	HP:0000431	Wide nasal bridge	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	61
HP:0000431	HP:0000431	Wide nasal bridge	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000431	HP:0000431	Wide nasal bridge	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000431	HP:0000431	Wide nasal bridge	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000431	HP:0000431	Wide nasal bridge	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000431	HP:0000431	Wide nasal bridge	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000431	HP:0000431	Wide nasal bridge	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0000431	HP:0000431	Wide nasal bridge	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000431	HP:0000431	Wide nasal bridge	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000431	HP:0000431	Wide nasal bridge	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000431	HP:0000431	Wide nasal bridge	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0000431	HP:0000431	Wide nasal bridge	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0000431	HP:0000431	Wide nasal bridge	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000431	HP:0000431	Wide nasal bridge	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000431	HP:0000431	Wide nasal bridge	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000431	HP:0000431	Wide nasal bridge	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0000431	HP:0000431	Wide nasal bridge	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	124
HP:0000431	HP:0000431	Wide nasal bridge	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000431	HP:0000431	Wide nasal bridge	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000431	HP:0000431	Wide nasal bridge	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0000431	HP:0000431	Wide nasal bridge	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000431	HP:0000431	Wide nasal bridge	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000431	HP:0000431	Wide nasal bridge	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0000431	HP:0000431	Wide nasal bridge	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000431	HP:0000431	Wide nasal bridge	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0000431	HP:0000431	Wide nasal bridge	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000431	HP:0000431	Wide nasal bridge	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000431	HP:0000431	Wide nasal bridge	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0000431	HP:0000431	Wide nasal bridge	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0000431	HP:0000431	Wide nasal bridge	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0000431	HP:0000431	Wide nasal bridge	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0000431	HP:0000431	Wide nasal bridge	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000431	HP:0000431	Wide nasal bridge	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000431	HP:0000431	Wide nasal bridge	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000431	HP:0000431	Wide nasal bridge	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000431	HP:0000431	Wide nasal bridge	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0000431	HP:0000431	Wide nasal bridge	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	37
HP:0000431	HP:0000431	Wide nasal bridge	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	43
HP:0000431	HP:0000431	Wide nasal bridge	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000431	HP:0000431	Wide nasal bridge	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0000431	HP:0000431	Wide nasal bridge	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0000431	HP:0000431	Wide nasal bridge	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000431	HP:0000431	Wide nasal bridge	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0000431	HP:0000431	Wide nasal bridge	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000431	HP:0000431	Wide nasal bridge	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040283 - Occasional	140
HP:0000431	HP:0000431	Wide nasal bridge	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000431	HP:0000431	Wide nasal bridge	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	54
HP:0000431	HP:0000431	Wide nasal bridge	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0000431	HP:0000431	Wide nasal bridge	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional	158
HP:0000431	HP:0000431	Wide nasal bridge	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78
HP:0000431	HP:0000431	Wide nasal bridge	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040282 - Frequent	78
HP:0000431	HP:0000431	Wide nasal bridge	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000431	HP:0000431	Wide nasal bridge	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0000431	HP:0000431	Wide nasal bridge	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0000431	HP:0000431	Wide nasal bridge	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000431	HP:0000431	Wide nasal bridge	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000431	HP:0000431	Wide nasal bridge	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0000431	HP:0000431	Wide nasal bridge	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000431	HP:0000431	Wide nasal bridge	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0000431	HP:0000431	Wide nasal bridge	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0000431	HP:0000431	Wide nasal bridge	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0000431	HP:0000431	Wide nasal bridge	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000431	HP:0000431	Wide nasal bridge	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0000431	HP:0000431	Wide nasal bridge	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7
HP:0000431	HP:0000431	Wide nasal bridge	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional	19
HP:0000431	HP:0000431	Wide nasal bridge	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0000431	HP:0000431	Wide nasal bridge	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0000431	HP:0000431	Wide nasal bridge	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0000431	HP:0000431	Wide nasal bridge	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000431	HP:0000431	Wide nasal bridge	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
HP:0000431	HP:0000431	Wide nasal bridge	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0000431	HP:0000431	Wide nasal bridge	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000431	HP:0000431	Wide nasal bridge	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000431	HP:0000431	Wide nasal bridge	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0000431	HP:0000431	Wide nasal bridge	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0000431	HP:0000431	Wide nasal bridge	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0000431	HP:0000431	Wide nasal bridge	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0000431	HP:0000431	Wide nasal bridge	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000431	HP:0000431	Wide nasal bridge	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000431	HP:0000431	Wide nasal bridge	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0000431	HP:0000431	Wide nasal bridge	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000431	HP:0000431	Wide nasal bridge	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000431	HP:0000431	Wide nasal bridge	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0000431	HP:0000431	Wide nasal bridge	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000431	HP:0000431	Wide nasal bridge	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000431	HP:0000431	Wide nasal bridge	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000431	HP:0000431	Wide nasal bridge	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000431	HP:0000431	Wide nasal bridge	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000431	HP:0000431	Wide nasal bridge	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000431	HP:0000431	Wide nasal bridge	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000431	HP:0000431	Wide nasal bridge	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0000431	HP:0000431	Wide nasal bridge	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5

Genes (555) :ABCA4 ABCC9 ACOX1 ACTB ACTG1 ACY1 ADA2 ADAMTS3 ADAMTSL1 ADNP AGA AGBL5 AGO2 AHI1 AHR ALG2 ALG3 ALX1 ALX3 ALX4 AMER1 ANKH AP2M1 AP3B1 AP4B1 AP4E1 AP4S1 APC2 ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARSK ARVCF ARX ASXL1 ASXL3 ATAD3A ATP6V0A2 ATP6V1A ATP6V1B2 ATRX AUTS2 B4GALT1 B4GALT7 BAZ1B BBS1 BBS2 BCAS3 BCL7B BEST1 BMP2 BPNT2 BPTF BRAF BRF1 BRPF1 BUD23 CA4 CASK CASZ1 CCBE1 CCDC22 CCNK CCNQ CD96 CDC42 CDH11 CDHR1 CDK10 CDK13 CENPF CERKL CFAP418 CHD2 CHD3 CHD8 CHN1 CILK1 CKAP2L CLIP2 CLP1 CLRN1 CNGA1 CNGB1 COG1 COG5 COL11A1 COL27A1 COLEC11 COMT COX7B CPLX1 CRB1 CREBBP CRX CSNK2A1 CTBP1 CTNND2 CTSD DCHS1 DDX3X DEAF1 DHCR7 DHDDS DHX38 DIS3L2 DLK1 DNAJC30 DPH5 DPYSL5 DVL1 DVL3 EDEM3 EDN3 EDNRA EDNRB EED EFNB1 EIF4H ELN EP300 ERCC1 ERCC2 ERCC5 ERCC6 ESCO2 EXOC2 EXT1 EYS FAM161A FANCL FAT4 FBN1 FBXL3 FBXO31 FGD1 FGF3 FGFR1 FGFRL1 FKBP6 FLI1 FLII FLNA FLNB FOXC1 FOXL2 FRAS1 FREM1 FREM2 FRMPD4 FSCN2 FUT8 FZD2 G6PC3 GABRD GAD1 GATA1 GATA4 GATAD2B GJA1 GLI3 GLUL GNE GNPAT GP1BB GPC3 GPC4 GPC6 GPRASP2 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C5 HBA1 HBA2 HCCS HGSNAT HIRA HIVEP2 HNRNPK HNRNPR HS2ST1 HSPG2 HYOU1 IDH3A IDH3B IDS IDUA IFT122 IFT140 IFT172 IFT52 IFT57 IFT88 IGF1R IMPDH1 IMPG1 IMPG2 INTS1 IQSEC2 IRX5 JMJD1C KANSL1 KATNB1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNMA1 KCNN3 KDM1A KDM4B KDM6A KDM6B KIAA0753 KIAA1549 KIF11 KIF14 KIF7 KIFBP KIT KIZ KLHL7 KMT2A KMT2D KMT5B KNSTRN KPTN KRAS KREMEN1 LARP7 LETM1 LIG4 LIMK1 LMNA LMNB1 LRAT LRPPRC LTBP1 LTBP3 LTBP4 LUZP1 MAF MAFB MAK MAN1B1 MAP3K7 MAPK1 MAPRE2 MARS2 MECP2 MED12 MED13 MED13L MEG3 MEGF8 MERTK METTL27 MID1 MINPP1 MITF MKS1 MLXIPL MMP23B MYCN MYH3 MYRF MYT1L NAA10 NALCN NCF1 NDE1 NDUFB11 NECTIN1 NEK1 NEK2 NELFA NEU1 NEXMIF NFASC NOG NOTCH2 NR2E3 NRAS NRL NSD2 NSUN2 NUDT2 NUP188 NXN OFD1 OPHN1 OTUD6B PACS2 PAH PARS2 PAX1 PAX3 PBX1 PCARE PCNT PDE4D PDE6A PDE6B PDE6G PDGFRB PDHA1 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PIEZO2 PIGB PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX2 PKDCC PLK4 POLR1A POLR1B POLR1C POLR1D POMGNT1 PPP1R21 PQBP1 PRCD PRDM16 PRKAR1A PRKCZ PRKDC PRKG2 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMD12 PTCH1 PTCH2 PTPN11 PUF60 PUM1 PURA PUS7 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAF1 RAI1 RALA RAPSN RARB RB1 RBL2 RBM10 RBP3 RDH12 REEP6 RELN RERE RFC2 RGR RHO RHOA RIN2 RLBP1 RLIM RMRP ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSRC1 RTL1 RTTN RUNX2 RYR1 SAG SALL4 SC5D SCAPER SCN1A SCNM1 SEC23A SEC24C SEMA4A SEMA5A SET SETD5 SH3PXD2B SHANK3 SHOX SIN3A SKI SKIC2 SKIC3 SLC12A6 SLC1A4 SLC2A1 SLC35A2 SLC35C1 SLC6A1 SLC7A14 SMARCA2 SMARCAL1 SMG9 SNAI2 SNAP29 SNRNP200 SNX14 SON SOST SOX10 SOX18 SOX5 SOX6 SPATA7 SPECC1L SPEN SPTBN1 SRCAP SRD5A3 STAG2 STAT3 STRA6 STRADA STT3A STX1A SUFU SUPT16H SVBP SYNGAP1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCK TBL2 TBX1 TBX6 TCF4 TCOF1 TENT5A TFAP2A TMCO1 TMEM270 TMEM53 TMEM70 TMEM94 TNNI2 TNNT3 TNPO2 TOE1 TOGARAM1 TOPORS TOR1A TP63 TPM2 TRAPPC9 TRIM37 TRIO TRMT1 TRPS1 TRRAP TSR2 TTC8 TUB TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNL4A UBE4B UFD1 UMPS UNC80 USH2A USP9X VDR VPS33A VPS37D WAC WARS2 WASHC5 WDR19 WDR35 WLS WNT5A WNT7A XRCC4 YARS1 ZEB2 ZMIZ1 ZMYM2 ZNF408 ZNF513 ZSWIM6

Diseases (430) :ORPHA:791 OMIM:239850 ORPHA:1517 OMIM:264470 ORPHA:2995 OMIM:243310 OMIM:609924 ORPHA:124 ORPHA:2136 ORPHA:521445 OMIM:615873 ORPHA:93 OMIM:619149 OMIM:608629 ORPHA:79326 OMIM:607906 OMIM:601110 OMIM:613456 ORPHA:306542 OMIM:136760 OMIM:613451 OMIM:300373 ORPHA:2780 ORPHA:1522 ORPHA:1942 OMIM:608233 OMIM:614066 OMIM:613744 OMIM:614067 OMIM:617169 ORPHA:251056 OMIM:619698 ORPHA:567 OMIM:300215 ORPHA:97297 OMIM:605039 OMIM:615485 OMIM:618810 OMIM:278250 OMIM:617403 ORPHA:79500 OMIM:309580 ORPHA:352490 OMIM:615834 ORPHA:79332 ORPHA:75496 OMIM:130070 ORPHA:904 OMIM:619641 ORPHA:261295 OMIM:614078 ORPHA:529962 ORPHA:500 ORPHA:444072 OMIM:617333 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:235510 ORPHA:7 OMIM:618147 ORPHA:140952 OMIM:211750 ORPHA:487796 OMIM:616737 OMIM:211380 OMIM:617694 OMIM:617360 OMIM:243605 OMIM:618205 OMIM:615032 ORPHA:233 OMIM:612651 ORPHA:3255 OMIM:272440 ORPHA:411493 OMIM:615803 ORPHA:263508 OMIM:611209 ORPHA:263487 ORPHA:560 OMIM:615155 OMIM:265050 ORPHA:2556 OMIM:194190 ORPHA:280 OMIM:180849 OMIM:617062 ORPHA:281 OMIM:610127 ORPHA:314679 OMIM:601390 OMIM:300958 ORPHA:819 ORPHA:818 OMIM:270400 OMIM:267000 ORPHA:2849 ORPHA:96334 OMIM:620070 OMIM:619435 ORPHA:3107 OMIM:180700 OMIM:616894 OMIM:619493 ORPHA:897 OMIM:616367 OMIM:617561 ORPHA:1520 OMIM:304110 ORPHA:1466 OMIM:268300 OMIM:619306 ORPHA:502 OMIM:614083 OMIM:615546 ORPHA:284979 OMIM:606220 OMIM:615979 OMIM:305400 ORPHA:915 ORPHA:90024 ORPHA:3366 OMIM:190440 ORPHA:2308 ORPHA:1826 OMIM:305620 ORPHA:90650 OMIM:311300 OMIM:112310 ORPHA:782 OMIM:110100 ORPHA:572333 ORPHA:2052 OMIM:219000 OMIM:300983 OMIM:618005 OMIM:612541 OMIM:619124 ORPHA:251071 OMIM:615074 OMIM:218400 ORPHA:380 OMIM:175700 OMIM:610015 OMIM:269921 ORPHA:3166 OMIM:222765 ORPHA:373 OMIM:312870 OMIM:258315 OMIM:301018 OMIM:619950 ORPHA:98791 OMIM:616977 ORPHA:352665 ORPHA:453504 OMIM:620073 OMIM:619194 ORPHA:1865 OMIM:224410 OMIM:233600 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:607014 OMIM:218330 OMIM:266920 OMIM:617102 OMIM:617927 ORPHA:73273 OMIM:270450 OMIM:618571 OMIM:611174 ORPHA:363958 ORPHA:363965 ORPHA:89844 ORPHA:420561 OMIM:135500 ORPHA:37553 OMIM:618729 OMIM:618658 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:147920 OMIM:618505 OMIM:617127 OMIM:619479 ORPHA:2526 OMIM:616258 OMIM:200990 OMIM:607131 ORPHA:166024 ORPHA:66629 OMIM:609460 ORPHA:2884 ORPHA:319182 OMIM:605130 OMIM:617788 ORPHA:221139 OMIM:613328 ORPHA:397612 OMIM:600268 OMIM:617392 OMIM:615071 ORPHA:99812 ORPHA:2229 OMIM:619179 OMIM:220111 OMIM:619451 OMIM:617809 OMIM:613177 OMIM:601088 ORPHA:2774 ORPHA:397941 OMIM:614202 OMIM:157800 OMIM:617137 OMIM:619087 OMIM:616734 OMIM:616430 OMIM:300260 OMIM:300895 OMIM:618009 ORPHA:369891 OMIM:614976 ORPHA:2745 OMIM:300000 ORPHA:284339 OMIM:193510 OMIM:617121 OMIM:164280 OMIM:193700 ORPHA:2053 ORPHA:1147 OMIM:618280 OMIM:616521 OMIM:300855 OMIM:616266 ORPHA:371364 OMIM:614019 ORPHA:3253 ORPHA:2751 ORPHA:812 OMIM:618356 OMIM:186500 ORPHA:955 OMIM:613224 OMIM:619695 OMIM:611091 OMIM:619844 OMIM:618804 ORPHA:1507 OMIM:618529 OMIM:300804 OMIM:311200 ORPHA:2750 ORPHA:137831 OMIM:617452 OMIM:618067 ORPHA:2209 OMIM:618437 OMIM:615560 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:617641 ORPHA:2637 ORPHA:950 OMIM:616592 OMIM:312170 ORPHA:44 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614859 OMIM:614886 OMIM:202370 OMIM:614207 ORPHA:247262 OMIM:615716 OMIM:617146 OMIM:618580 OMIM:280000 ORPHA:2059 OMIM:614749 ORPHA:369837 OMIM:239300 OMIM:616025 ORPHA:557003 OMIM:618440 OMIM:269880 ORPHA:3163 OMIM:180500 OMIM:618821 ORPHA:2518 ORPHA:1200 ORPHA:861 OMIM:619383 ORPHA:93946 OMIM:309500 OMIM:615966 OMIM:619636 OMIM:617157 OMIM:109400 ORPHA:377 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:617931 OMIM:616158 ORPHA:438216 OMIM:618342 ORPHA:2510 OMIM:600118 OMIM:618577 OMIM:614701 OMIM:182290 OMIM:619311 OMIM:618388 OMIM:615524 ORPHA:1587 OMIM:619690 ORPHA:2886 OMIM:311900 OMIM:618727 OMIM:613075 OMIM:300978 ORPHA:175 OMIM:268310 OMIM:300998 OMIM:612563 OMIM:618402 ORPHA:468631 OMIM:119600 ORPHA:324581 OMIM:607330 OMIM:620107 OMIM:607812 OMIM:618106 ORPHA:404440 OMIM:615761 ORPHA:137834 ORPHA:48652 OMIM:606232 ORPHA:240 OMIM:613406 ORPHA:84064 OMIM:614602 OMIM:218000 ORPHA:447997 OMIM:300896 ORPHA:99843 OMIM:619293 OMIM:242900 OMIM:619995 OMIM:616920 OMIM:609528 ORPHA:397709 ORPHA:500150 OMIM:617140 ORPHA:1513 OMIM:122860 OMIM:269500 ORPHA:163746 OMIM:137940 OMIM:616803 OMIM:618971 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:619475 OMIM:619595 OMIM:612713 OMIM:301022 ORPHA:2314 OMIM:601186 OMIM:611087 OMIM:619714 OMIM:619480 OMIM:618569 OMIM:616897 OMIM:618950 OMIM:220500 ORPHA:488632 ORPHA:1797 OMIM:610954 OMIM:617952 ORPHA:1297 OMIM:213980 OMIM:619727 OMIM:614052 OMIM:618316 OMIM:601680 OMIM:619556 OMIM:614969 OMIM:619185 OMIM:618947 ORPHA:978 OMIM:106260 ORPHA:352530 OMIM:613192 OMIM:253250 ORPHA:2576 OMIM:617061 OMIM:618302 OMIM:618454 OMIM:617746 ORPHA:1231 ORPHA:1807 ORPHA:30 OMIM:300968 ORPHA:480880 OMIM:277440 OMIM:617303 ORPHA:466950 ORPHA:572798 OMIM:614376 OMIM:613610 OMIM:619648 OMIM:276820 OMIM:619418 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619522 OMIM:603671

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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