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:0000414	HP:0000414	Bulbous nose	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	HP:0040283 - Occasional	1
HP:0000414	HP:0000414	Bulbous nose	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0000414	HP:0000414	Bulbous nose	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000414	HP:0000414	Bulbous nose	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000414	HP:0000414	Bulbous nose	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0000414	HP:0000414	Bulbous nose	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000414	HP:0000414	Bulbous nose	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0000414	HP:0000414	Bulbous nose	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0000414	HP:0000414	Bulbous nose	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0000414	HP:0000414	Bulbous nose	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000414	HP:0000414	Bulbous nose	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0000414	HP:0000414	Bulbous nose	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0000414	HP:0000414	Bulbous nose	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0000414	HP:0000414	Bulbous nose	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0000414	HP:0000414	Bulbous nose	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000414	HP:0000414	Bulbous nose	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000414	HP:0000414	Bulbous nose	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000414	HP:0000414	Bulbous nose	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000414	HP:0000414	Bulbous nose	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000414	HP:0000414	Bulbous nose	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0000414	HP:0000414	Bulbous nose	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000414	HP:0000414	Bulbous nose	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000414	HP:0000414	Bulbous nose	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000414	HP:0000414	Bulbous nose	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000414	HP:0000414	Bulbous nose	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0000414	HP:0000414	Bulbous nose	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000414	HP:0000414	Bulbous nose	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0000414	HP:0000414	Bulbous nose	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000414	HP:0000414	Bulbous nose	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000414	HP:0000414	Bulbous nose	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000414	HP:0000414	Bulbous nose	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000414	HP:0000414	Bulbous nose	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000414	HP:0000414	Bulbous nose	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000414	HP:0000414	Bulbous nose	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000414	HP:0000414	Bulbous nose	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000414	HP:0000414	Bulbous nose	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0000414	HP:0000414	Bulbous nose	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000414	HP:0000414	Bulbous nose	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0000414	HP:0000414	Bulbous nose	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0000414	HP:0000414	Bulbous nose	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000414	HP:0000414	Bulbous nose	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000414	HP:0000414	Bulbous nose	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0000414	HP:0000414	Bulbous nose	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000414	HP:0000414	Bulbous nose	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000414	HP:0000414	Bulbous nose	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0000414	HP:0000414	Bulbous nose	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0000414	HP:0000414	Bulbous nose	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0000414	HP:0000414	Bulbous nose	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000414	HP:0000414	Bulbous nose	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000414	HP:0000414	Bulbous nose	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000414	HP:0000414	Bulbous nose	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000414	HP:0000414	Bulbous nose	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000414	HP:0000414	Bulbous nose	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0000414	HP:0000414	Bulbous nose	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000414	HP:0000414	Bulbous nose	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0000414	HP:0000414	Bulbous nose	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000414	HP:0000414	Bulbous nose	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000414	HP:0000414	Bulbous nose	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0000414	HP:0000414	Bulbous nose	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000414	HP:0000414	Bulbous nose	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000414	HP:0000414	Bulbous nose	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000414	HP:0000414	Bulbous nose	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000414	HP:0000414	Bulbous nose	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0000414	HP:0000414	Bulbous nose	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0000414	HP:0000414	Bulbous nose	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0000414	HP:0000414	Bulbous nose	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000414	HP:0000414	Bulbous nose	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000414	HP:0000414	Bulbous nose	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	1361
HP:0000414	HP:0000414	Bulbous nose	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000414	HP:0000414	Bulbous nose	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000414	HP:0000414	Bulbous nose	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0000414	HP:0000414	Bulbous nose	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent	177
HP:0000414	HP:0000414	Bulbous nose	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000414	HP:0000414	Bulbous nose	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000414	HP:0000414	Bulbous nose	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0000414	HP:0000414	Bulbous nose	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0000414	HP:0000414	Bulbous nose	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000414	HP:0000414	Bulbous nose	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000414	HP:0000414	Bulbous nose	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000414	HP:0000414	Bulbous nose	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000414	HP:0000414	Bulbous nose	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000414	HP:0000414	Bulbous nose	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000414	HP:0000414	Bulbous nose	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000414	HP:0000414	Bulbous nose	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000414	HP:0000414	Bulbous nose	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000414	HP:0000414	Bulbous nose	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040281 - Very frequent	283
HP:0000414	HP:0000414	Bulbous nose	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000414	HP:0000414	Bulbous nose	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040281 - Very frequent	283
HP:0000414	HP:0000414	Bulbous nose	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000414	HP:0000414	Bulbous nose	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000414	HP:0000414	Bulbous nose	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000414	HP:0000414	Bulbous nose	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000414	HP:0000414	Bulbous nose	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0000414	HP:0000414	Bulbous nose	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000414	HP:0000414	Bulbous nose	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000414	HP:0000414	Bulbous nose	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000414	HP:0000414	Bulbous nose	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0000414	HP:0000414	Bulbous nose	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000414	HP:0000414	Bulbous nose	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000414	HP:0000414	Bulbous nose	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000414	HP:0000414	Bulbous nose	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0000414	HP:0000414	Bulbous nose	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000414	HP:0000414	Bulbous nose	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000414	HP:0000414	Bulbous nose	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0000414	HP:0000414	Bulbous nose	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0000414	HP:0000414	Bulbous nose	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0000414	HP:0000414	Bulbous nose	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	12
HP:0000414	HP:0000414	Bulbous nose	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0000414	HP:0000414	Bulbous nose	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000414	HP:0000414	Bulbous nose	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000414	HP:0000414	Bulbous nose	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000414	HP:0000414	Bulbous nose	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type	HP:0040282 - Frequent	228
HP:0000414	HP:0000414	Bulbous nose	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0000414	HP:0000414	Bulbous nose	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000414	HP:0000414	Bulbous nose	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0000414	HP:0000414	Bulbous nose	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0000414	HP:0000414	Bulbous nose	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000414	HP:0000414	Bulbous nose	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0000414	HP:0000414	Bulbous nose	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0000414	HP:0000414	Bulbous nose	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000414	HP:0000414	Bulbous nose	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000414	HP:0000414	Bulbous nose	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000414	HP:0000414	Bulbous nose	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0000414	HP:0000414	Bulbous nose	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0000414	HP:0000414	Bulbous nose	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent	1
HP:0000414	HP:0000414	Bulbous nose	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0000414	HP:0000414	Bulbous nose	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000414	HP:0000414	Bulbous nose	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000414	HP:0000414	Bulbous nose	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000414	HP:0000414	Bulbous nose	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000414	HP:0000414	Bulbous nose	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000414	HP:0000414	Bulbous nose	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000414	HP:0000414	Bulbous nose	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000414	HP:0000414	Bulbous nose	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000414	HP:0000414	Bulbous 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:0000414	HP:0000414	Bulbous nose	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000414	HP:0000414	Bulbous nose	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0000414	HP:0000414	Bulbous nose	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000414	HP:0000414	Bulbous nose	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0000414	HP:0000414	Bulbous nose	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000414	HP:0000414	Bulbous nose	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000414	HP:0000414	Bulbous nose	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0000414	HP:0000414	Bulbous nose	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000414	HP:0000414	Bulbous nose	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000414	HP:0000414	Bulbous nose	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000414	HP:0000414	Bulbous nose	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000414	HP:0000414	Bulbous nose	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000414	HP:0000414	Bulbous nose	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000414	HP:0000414	Bulbous nose	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000414	HP:0000414	Bulbous nose	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000414	HP:0000414	Bulbous nose	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000414	HP:0000414	Bulbous nose	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000414	HP:0000414	Bulbous nose	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000414	HP:0000414	Bulbous nose	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000414	HP:0000414	Bulbous nose	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000414	HP:0000414	Bulbous nose	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0000414	HP:0000414	Bulbous nose	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0000414	HP:0000414	Bulbous nose	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0000414	HP:0000414	Bulbous nose	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0000414	HP:0000414	Bulbous nose	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000414	HP:0000414	Bulbous nose	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0000414	HP:0000414	Bulbous nose	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000414	HP:0000414	Bulbous nose	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000414	HP:0000414	Bulbous nose	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000414	HP:0000414	Bulbous nose	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000414	HP:0000414	Bulbous nose	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000414	HP:0000414	Bulbous nose	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000414	HP:0000414	Bulbous nose	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0000414	HP:0000414	Bulbous nose	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0000414	HP:0000414	Bulbous nose	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000414	HP:0000414	Bulbous nose	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000414	HP:0000414	Bulbous nose	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000414	HP:0000414	Bulbous nose	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000414	HP:0000414	Bulbous nose	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0000414	HP:0000414	Bulbous nose	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000414	HP:0000414	Bulbous nose	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000414	HP:0000414	Bulbous nose	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0000414	HP:0000414	Bulbous nose	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000414	HP:0000414	Bulbous nose	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0000414	HP:0000414	Bulbous nose	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000414	HP:0000414	Bulbous nose	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional	21
HP:0000414	HP:0000414	Bulbous nose	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000414	HP:0000414	Bulbous nose	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000414	HP:0000414	Bulbous nose	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000414	HP:0000414	Bulbous nose	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	.	13
HP:0000414	HP:0000414	Bulbous nose	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0000414	HP:0000414	Bulbous nose	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000414	HP:0000414	Bulbous nose	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0000414	HP:0000414	Bulbous nose	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0000414	HP:0000414	Bulbous nose	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000414	HP:0000414	Bulbous nose	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0000414	HP:0000414	Bulbous nose	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000414	HP:0000414	Bulbous nose	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000414	HP:0000414	Bulbous nose	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0000414	HP:0000414	Bulbous nose	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0000414	HP:0000414	Bulbous nose	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000414	HP:0000414	Bulbous nose	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000414	HP:0000414	Bulbous nose	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000414	HP:0000414	Bulbous nose	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0000414	HP:0000414	Bulbous nose	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000414	HP:0000414	Bulbous nose	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000414	HP:0000414	Bulbous nose	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000414	HP:0000414	Bulbous nose	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000414	HP:0000414	Bulbous nose	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000414	HP:0000414	Bulbous 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:0000414	HP:0000414	Bulbous nose	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:0000414	HP:0000414	Bulbous nose	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0000414	HP:0000414	Bulbous nose	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040281 - Very frequent	7
HP:0000414	HP:0000414	Bulbous nose	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000414	HP:0000414	Bulbous nose	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3