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:0003196	HP:0003196	Short nose	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0003196	HP:0003196	Short nose	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0003196	HP:0003196	Short nose	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0003196	HP:0003196	Short nose	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0003196	HP:0003196	Short nose	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0003196	HP:0003196	Short nose	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0003196	HP:0003196	Short nose	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0003196	HP:0003196	Short nose	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0003196	HP:0003196	Short nose	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0003196	HP:0003196	Short nose	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0003196	HP:0003196	Short nose	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0003196	HP:0003196	Short nose	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0003196	HP:0003196	Short nose	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0003196	HP:0003196	Short nose	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0003196	HP:0003196	Short nose	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0003196	HP:0003196	Short nose	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0003196	HP:0003196	Short nose	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0003196	HP:0003196	Short nose	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0003196	HP:0003196	Short nose	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0003196	HP:0003196	Short nose	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0003196	HP:0003196	Short nose	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0003196	HP:0003196	Short nose	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0003196	HP:0003196	Short nose	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0003196	HP:0003196	Short nose	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0003196	HP:0003196	Short nose	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0003196	HP:0003196	Short nose	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0003196	HP:0003196	Short nose	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0003196	HP:0003196	Short nose	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0003196	HP:0003196	Short nose	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0003196	HP:0003196	Short nose	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0003196	HP:0003196	Short nose	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0003196	HP:0003196	Short nose	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0003196	HP:0003196	Short nose	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0003196	HP:0003196	Short nose	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0003196	HP:0003196	Short nose	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0003196	HP:0003196	Short nose	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0003196	HP:0003196	Short nose	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0003196	HP:0003196	Short nose	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0003196	HP:0003196	Short nose	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0003196	HP:0003196	Short nose	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0003196	HP:0003196	Short nose	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003196	HP:0003196	Short nose	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0003196	HP:0003196	Short nose	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0003196	HP:0003196	Short nose	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0003196	HP:0003196	Short nose	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0003196	HP:0003196	Short nose	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0003196	HP:0003196	Short nose	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0003196	HP:0003196	Short nose	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0003196	HP:0003196	Short nose	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0003196	HP:0003196	Short nose	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0003196	HP:0003196	Short nose	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0003196	HP:0003196	Short nose	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0003196	HP:0003196	Short nose	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0003196	HP:0003196	Short nose	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0003196	HP:0003196	Short nose	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0003196	HP:0003196	Short nose	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0003196	HP:0003196	Short nose	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0003196	HP:0003196	Short nose	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0003196	HP:0003196	Short nose	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0003196	HP:0003196	Short nose	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040281 - Very frequent	284
HP:0003196	HP:0003196	Short nose	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0003196	HP:0003196	Short nose	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0003196	HP:0003196	Short nose	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0003196	HP:0003196	Short nose	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0003196	HP:0003196	Short nose	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0003196	HP:0003196	Short nose	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003196	HP:0003196	Short nose	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0003196	HP:0003196	Short nose	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0003196	HP:0003196	Short nose	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0003196	HP:0003196	Short nose	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0003196	HP:0003196	Short nose	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0003196	HP:0003196	Short nose	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0003196	HP:0003196	Short nose	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0003196	HP:0003196	Short nose	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0003196	HP:0003196	Short nose	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0003196	HP:0003196	Short nose	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent	144
HP:0003196	HP:0003196	Short nose	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0003196	HP:0003196	Short nose	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0003196	HP:0003196	Short nose	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0003196	HP:0003196	Short nose	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003196	HP:0003196	Short nose	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0003196	HP:0003196	Short nose	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0003196	HP:0003196	Short nose	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003196	HP:0003196	Short nose	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0003196	HP:0003196	Short nose	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0003196	HP:0003196	Short nose	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0003196	HP:0003196	Short nose	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0003196	HP:0003196	Short nose	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0003196	HP:0003196	Short nose	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0003196	HP:0003196	Short nose	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0003196	HP:0003196	Short nose	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003196	HP:0003196	Short nose	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0003196	HP:0003196	Short nose	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0003196	HP:0003196	Short nose	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent	35
HP:0003196	HP:0003196	Short nose	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0003196	HP:0003196	Short nose	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0003196	HP:0003196	Short nose	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	1361
HP:0003196	HP:0003196	Short nose	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0003196	HP:0003196	Short nose	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0003196	HP:0003196	Short nose	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0003196	HP:0003196	Short nose	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0003196	HP:0003196	Short nose	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0003196	HP:0003196	Short nose	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0003196	HP:0003196	Short nose	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0003196	HP:0003196	Short nose	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0003196	HP:0003196	Short nose	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0003196	HP:0003196	Short nose	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0003196	HP:0003196	Short nose	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0003196	HP:0003196	Short nose	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0003196	HP:0003196	Short nose	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0003196	HP:0003196	Short nose	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0003196	HP:0003196	Short nose	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0003196	HP:0003196	Short nose	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0003196	HP:0003196	Short nose	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003196	HP:0003196	Short nose	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0003196	HP:0003196	Short nose	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0003196	HP:0003196	Short nose	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0003196	HP:0003196	Short nose	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0003196	HP:0003196	Short nose	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.	3
HP:0003196	HP:0003196	Short nose	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0003196	HP:0003196	Short nose	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0003196	HP:0003196	Short nose	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0003196	HP:0003196	Short nose	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0003196	HP:0003196	Short nose	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0003196	HP:0003196	Short nose	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0003196	HP:0003196	Short nose	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0003196	HP:0003196	Short nose	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0003196	HP:0003196	Short nose	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0003196	HP:0003196	Short nose	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.	3
HP:0003196	HP:0003196	Short nose	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0003196	HP:0003196	Short nose	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003196	HP:0003196	Short nose	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0003196	HP:0003196	Short nose	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0003196	HP:0003196	Short nose	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003196	HP:0003196	Short nose	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional	99
HP:0003196	HP:0003196	Short nose	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0003196	HP:0003196	Short nose	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0003196	HP:0003196	Short nose	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0003196	HP:0003196	Short nose	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003196	HP:0003196	Short nose	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003196	HP:0003196	Short nose	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003196	HP:0003196	Short nose	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0003196	HP:0003196	Short nose	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0003196	HP:0003196	Short nose	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0003196	HP:0003196	Short nose	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0003196	HP:0003196	Short nose	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0003196	HP:0003196	Short nose	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0003196	HP:0003196	Short nose	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0003196	HP:0003196	Short nose	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0003196	HP:0003196	Short nose	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003196	HP:0003196	Short nose	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0003196	HP:0003196	Short nose	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0003196	HP:0003196	Short nose	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0003196	HP:0003196	Short nose	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0003196	HP:0003196	Short nose	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0003196	HP:0003196	Short nose	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0003196	HP:0003196	Short nose	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0003196	HP:0003196	Short nose	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0003196	HP:0003196	Short nose	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0003196	HP:0003196	Short nose	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0003196	HP:0003196	Short nose	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0003196	HP:0003196	Short nose	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0003196	HP:0003196	Short nose	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0003196	HP:0003196	Short nose	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0003196	HP:0003196	Short nose	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0003196	HP:0003196	Short nose	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0003196	HP:0003196	Short nose	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0003196	HP:0003196	Short nose	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0003196	HP:0003196	Short nose	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	12
HP:0003196	HP:0003196	Short nose	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0003196	HP:0003196	Short nose	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0003196	HP:0003196	Short nose	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0003196	HP:0003196	Short nose	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0003196	HP:0003196	Short nose	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0003196	HP:0003196	Short nose	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0003196	HP:0003196	Short nose	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0003196	HP:0003196	Short nose	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0003196	HP:0003196	Short nose	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0003196	HP:0003196	Short nose	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040282 - Frequent	132
HP:0003196	HP:0003196	Short nose	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0003196	HP:0003196	Short nose	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003196	HP:0003196	Short nose	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0003196	HP:0003196	Short nose	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003196	HP:0003196	Short nose	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003196	HP:0003196	Short nose	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0003196	HP:0003196	Short nose	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003196	HP:0003196	Short nose	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0003196	HP:0003196	Short nose	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0003196	HP:0003196	Short nose	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0003196	HP:0003196	Short nose	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0003196	HP:0003196	Short nose	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0003196	HP:0003196	Short nose	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0003196	HP:0003196	Short nose	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0003196	HP:0003196	Short nose	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0003196	HP:0003196	Short nose	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0003196	HP:0003196	Short nose	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0003196	HP:0003196	Short nose	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0003196	HP:0003196	Short nose	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent	52
HP:0003196	HP:0003196	Short nose	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0003196	HP:0003196	Short nose	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0003196	HP:0003196	Short nose	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003196	HP:0003196	Short nose	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0003196	HP:0003196	Short nose	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0003196	HP:0003196	Short nose	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0003196	HP:0003196	Short nose	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0003196	HP:0003196	Short nose	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0003196	HP:0003196	Short nose	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003196	HP:0003196	Short nose	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0003196	HP:0003196	Short nose	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0003196	HP:0003196	Short nose	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0003196	HP:0003196	Short nose	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	231
HP:0003196	HP:0003196	Short nose	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	231
HP:0003196	HP:0003196	Short nose	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0003196	HP:0003196	Short nose	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0003196	HP:0003196	Short nose	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0003196	HP:0003196	Short nose	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0003196	HP:0003196	Short nose	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0003196	HP:0003196	Short nose	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0003196	HP:0003196	Short nose	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0003196	HP:0003196	Short nose	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0003196	HP:0003196	Short nose	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0003196	HP:0003196	Short nose	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0003196	HP:0003196	Short nose	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0003196	HP:0003196	Short nose	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0003196	HP:0003196	Short nose	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0003196	HP:0003196	Short nose	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0003196	HP:0003196	Short nose	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0003196	HP:0003196	Short nose	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0003196	HP:0003196	Short nose	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0003196	HP:0003196	Short nose	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0003196	HP:0003196	Short nose	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0003196	HP:0003196	Short nose	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003196	HP:0003196	Short nose	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0003196	HP:0003196	Short nose	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0003196	HP:0003196	Short nose	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0003196	HP:0003196	Short nose	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0003196	HP:0003196	Short nose	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0003196	HP:0003196	Short nose	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0003196	HP:0003196	Short nose	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0003196	HP:0003196	Short nose	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional	8
HP:0003196	HP:0003196	Short nose	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0003196	HP:0003196	Short nose	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0003196	HP:0003196	Short nose	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	9
HP:0003196	HP:0003196	Short nose	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003196	HP:0003196	Short 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:0003196	HP:0003196	Short nose	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003196	HP:0003196	Short nose	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0003196	HP:0003196	Short nose	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0003196	HP:0003196	Short nose	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0003196	HP:0003196	Short nose	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0003196	HP:0003196	Short nose	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0003196	HP:0003196	Short nose	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0003196	HP:0003196	Short nose	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0003196	HP:0003196	Short nose	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.	948
HP:0003196	HP:0003196	Short nose	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0003196	HP:0003196	Short nose	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0003196	HP:0003196	Short nose	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0003196	HP:0003196	Short nose	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent	57
HP:0003196	HP:0003196	Short nose	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0003196	HP:0003196	Short nose	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0003196	HP:0003196	Short nose	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0003196	HP:0003196	Short nose	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0003196	HP:0003196	Short nose	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0003196	HP:0003196	Short nose	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0003196	HP:0003196	Short nose	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0003196	HP:0003196	Short nose	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0003196	HP:0003196	Short nose	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0003196	HP:0003196	Short nose	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0003196	HP:0003196	Short nose	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0003196	HP:0003196	Short nose	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0003196	HP:0003196	Short nose	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent	69
HP:0003196	HP:0003196	Short nose	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003196	HP:0003196	Short nose	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003196	HP:0003196	Short nose	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0003196	HP:0003196	Short nose	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003196	HP:0003196	Short nose	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0003196	HP:0003196	Short nose	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0003196	HP:0003196	Short nose	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0003196	HP:0003196	Short nose	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0003196	HP:0003196	Short nose	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003196	HP:0003196	Short nose	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0003196	HP:0003196	Short nose	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003196	HP:0003196	Short nose	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040281 - Very frequent	143
HP:0003196	HP:0003196	Short nose	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0003196	HP:0003196	Short nose	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	74
HP:0003196	HP:0003196	Short nose	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0003196	HP:0003196	Short nose	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003196	HP:0003196	Short nose	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0003196	HP:0003196	Short nose	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0003196	HP:0003196	Short nose	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0003196	HP:0003196	Short nose	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0003196	HP:0003196	Short nose	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0003196	HP:0003196	Short nose	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0003196	HP:0003196	Short nose	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0003196	HP:0003196	Short nose	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0003196	HP:0003196	Short nose	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0003196	HP:0003196	Short nose	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0003196	HP:0003196	Short nose	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0003196	HP:0003196	Short nose	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0003196	HP:0003196	Short nose	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0003196	HP:0003196	Short nose	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0003196	HP:0003196	Short nose	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0003196	HP:0003196	Short nose	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0003196	HP:0003196	Short nose	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0003196	HP:0003196	Short nose	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0003196	HP:0003196	Short nose	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0003196	HP:0003196	Short nose	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0003196	HP:0003196	Short nose	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0003196	HP:0003196	Short nose	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0003196	HP:0003196	Short nose	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0003196	HP:0003196	Short nose	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0003196	HP:0003196	Short nose	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003196	HP:0003196	Short nose	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0003196	HP:0003196	Short nose	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0003196	HP:0003196	Short nose	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0003196	HP:0003196	Short nose	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0003196	HP:0003196	Short nose	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0003196	HP:0003196	Short nose	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0003196	HP:0003196	Short nose	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0003196	HP:0003196	Short nose	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0003196	HP:0003196	Short nose	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.	76
HP:0003196	HP:0003196	Short nose	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0003196	HP:0003196	Short nose	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0003196	HP:0003196	Short nose	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003196	HP:0003196	Short nose	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0003196	HP:0003196	Short nose	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0003196	HP:0003196	Short nose	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0003196	HP:0003196	Short nose	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003196	HP:0003196	Short nose	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0003196	HP:0003196	Short nose	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0003196	HP:0003196	Short nose	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0003196	HP:0003196	Short nose	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0003196	HP:0003196	Short nose	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0003196	HP:0003196	Short nose	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional	133
HP:0003196	HP:0003196	Short nose	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0003196	HP:0003196	Short 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:0003196	HP:0003196	Short nose	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0003196	HP:0003196	Short nose	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional	19
HP:0003196	HP:0003196	Short nose	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0003196	HP:0003196	Short nose	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent	25
HP:0003196	HP:0003196	Short nose	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0003196	HP:0003196	Short nose	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0003196	HP:0003196	Short nose	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0003196	HP:0003196	Short nose	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003196	HP:0003196	Short nose	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0003196	HP:0003196	Short nose	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0003196	HP:0003196	Short nose	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0003196	HP:0003196	Short nose	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0003196	HP:0003196	Short nose	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003196	HP:0003196	Short nose	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0003196	HP:0003196	Short nose	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent	45
HP:0003196	HP:0003196	Short nose	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	14
HP:0003196	HP:0003196	Short nose	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	14
HP:0003196	HP:0003196	Short nose	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0003196	HP:0003196	Short nose	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0003196	HP:0003196	Short nose	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0003196	HP:0003196	Short nose	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0003196	HP:0003196	Short nose	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0003196	HP:0003196	Short nose	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0003196	HP:0003196	Short nose	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003196	HP:0003196	Short nose	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0003196	HP:0003196	Short nose	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0003196	HP:0003196	Short nose	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003196	HP:0003196	Short nose	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5