Human Phenotype Ontology

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:0000445	HP:0000445	Wide nose	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000445	HP:0000445	Wide nose	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000445	HP:0000445	Wide nose	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040284 - Very rare	13
HP:0000445	HP:0000445	Wide nose	0	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.	8
HP:0000445	HP:0000445	Wide nose	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000445	HP:0000445	Wide nose	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0000445	HP:0000445	Wide nose	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0000445	HP:0000445	Wide nose	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0000445	HP:0000445	Wide nose	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	HP:0040283 - Occasional	4
HP:0000445	HP:0000445	Wide nose	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0000445	HP:0000445	Wide nose	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0000445	HP:0000445	Wide nose	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0000445	HP:0000445	Wide nose	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0000445	HP:0000445	Wide nose	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0000445	HP:0000445	Wide nose	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000445	HP:0000445	Wide nose	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000445	HP:0000445	Wide nose	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0000445	HP:0000445	Wide nose	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000445	HP:0000445	Wide nose	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0000445	HP:0000445	Wide nose	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000445	HP:0000445	Wide nose	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0000445	HP:0000445	Wide nose	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0000445	HP:0000445	Wide nose	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000445	HP:0000445	Wide nose	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	6
HP:0000445	HP:0000445	Wide nose	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0000445	HP:0000445	Wide nose	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000445	HP:0000445	Wide nose	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:0000445	HP:0000445	Wide nose	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000445	HP:0000445	Wide nose	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0000445	HP:0000445	Wide nose	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0000445	HP:0000445	Wide nose	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000445	HP:0000445	Wide nose	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0000445	HP:0000445	Wide nose	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0000445	HP:0000445	Wide nose	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0000445	HP:0000445	Wide nose	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000445	HP:0000445	Wide nose	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000445	HP:0000445	Wide nose	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000445	HP:0000445	Wide nose	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040281 - Very frequent	92
HP:0000445	HP:0000445	Wide nose	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000445	HP:0000445	Wide nose	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000445	HP:0000445	Wide nose	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000445	HP:0000445	Wide nose	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000445	HP:0000445	Wide nose	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0000445	HP:0000445	Wide nose	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0000445	HP:0000445	Wide nose	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000445	HP:0000445	Wide nose	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000445	HP:0000445	Wide nose	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0000445	HP:0000445	Wide nose	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	11
HP:0000445	HP:0000445	Wide nose	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000445	HP:0000445	Wide nose	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000445	HP:0000445	Wide nose	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0000445	HP:0000445	Wide nose	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0000445	HP:0000445	Wide nose	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0000445	HP:0000445	Wide nose	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0000445	HP:0000445	Wide nose	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000445	HP:0000445	Wide nose	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000445	HP:0000445	Wide nose	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000445	HP:0000445	Wide nose	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0000445	HP:0000445	Wide nose	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0000445	HP:0000445	Wide nose	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000445	HP:0000445	Wide nose	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0000445	HP:0000445	Wide nose	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0000445	HP:0000445	Wide nose	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0000445	HP:0000445	Wide nose	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0000445	HP:0000445	Wide nose	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000445	HP:0000445	Wide nose	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000445	HP:0000445	Wide nose	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent	16
HP:0000445	HP:0000445	Wide nose	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000445	HP:0000445	Wide nose	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0000445	HP:0000445	Wide nose	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000445	HP:0000445	Wide nose	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0000445	HP:0000445	Wide nose	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000445	HP:0000445	Wide nose	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000445	HP:0000445	Wide nose	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:0000445	HP:0000445	Wide nose	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000445	HP:0000445	Wide nose	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0000445	HP:0000445	Wide nose	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040281 - Very frequent	33
HP:0000445	HP:0000445	Wide nose	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0000445	HP:0000445	Wide nose	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0000445	HP:0000445	Wide nose	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000445	HP:0000445	Wide nose	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000445	HP:0000445	Wide nose	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	3
HP:0000445	HP:0000445	Wide nose	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0000445	HP:0000445	Wide nose	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000445	HP:0000445	Wide nose	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000445	HP:0000445	Wide nose	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0000445	HP:0000445	Wide nose	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	231
HP:0000445	HP:0000445	Wide nose	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000445	HP:0000445	Wide nose	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0000445	HP:0000445	Wide nose	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000445	HP:0000445	Wide nose	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000445	HP:0000445	Wide nose	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000445	HP:0000445	Wide nose	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0000445	HP:0000445	Wide nose	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0000445	HP:0000445	Wide nose	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000445	HP:0000445	Wide nose	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0000445	HP:0000445	Wide nose	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000445	HP:0000445	Wide nose	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000445	HP:0000445	Wide nose	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000445	HP:0000445	Wide nose	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000445	HP:0000445	Wide nose	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0000445	HP:0000445	Wide nose	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000445	HP:0000445	Wide nose	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:0000445	HP:0000445	Wide nose	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000445	HP:0000445	Wide nose	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0000445	HP:0000445	Wide nose	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000445	HP:0000445	Wide nose	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000445	HP:0000445	Wide nose	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000445	HP:0000445	Wide nose	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000445	HP:0000445	Wide nose	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0000445	HP:0000445	Wide nose	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000445	HP:0000445	Wide nose	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000445	HP:0000445	Wide nose	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000445	HP:0000445	Wide nose	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0000445	HP:0000445	Wide nose	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0000445	HP:0000445	Wide nose	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000445	HP:0000445	Wide nose	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000445	HP:0000445	Wide nose	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000445	HP:0000445	Wide nose	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0000445	HP:0000445	Wide nose	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0000445	HP:0000445	Wide nose	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000445	HP:0000445	Wide nose	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000445	HP:0000445	Wide nose	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000445	HP:0000445	Wide nose	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0000445	HP:0000445	Wide nose	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000445	HP:0000445	Wide nose	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000445	HP:0000445	Wide nose	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000445	HP:0000445	Wide nose	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000445	HP:0000445	Wide nose	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0000445	HP:0000445	Wide nose	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.	7
HP:0000445	HP:0000445	Wide nose	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000445	HP:0000445	Wide nose	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000445	HP:0000445	Wide nose	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000445	HP:0000445	Wide nose	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000445	HP:0000445	Wide nose	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000445	HP:0000445	Wide nose	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0000445	HP:0000445	Wide nose	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000445	HP:0000445	Wide nose	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0000445	HP:0000445	Wide nose	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	14
HP:0000445	HP:0000445	Wide nose	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1