Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal morphology of the nasal alae (HP:0000429)

Grandparent Node:
Abnormal nasal morphology (HP:0005105)

Grandparent Node:
Abnormal nostril morphology (HP:0005288)

Parent Node:
Abnormal nasal tip morphology (HP:0000436)

Parent Node:
Anteverted nares (HP:0000463)

..Starting node
..Broad nasal tip (HP:0000455)

Term ID:

455

Name:

Broad nasal tip

Synonym:

Broad nasal tip; Broad tip of nose; Broad upturned nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose

Definition:

Increase in width of the nasal tip.

Comments:

Reference:

HP:0000455

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Thin anteverted nares (HP:0004495)

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:0000455	HP:0000455	Broad nasal tip	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000455	HP:0000455	Broad nasal tip	0	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.	8
HP:0000455	HP:0000455	Broad nasal tip	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000455	HP:0000455	Broad nasal tip	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0000455	HP:0000455	Broad nasal tip	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000455	HP:0000455	Broad nasal tip	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000455	HP:0000455	Broad nasal tip	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0000455	HP:0000455	Broad nasal tip	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0000455	HP:0000455	Broad nasal tip	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0000455	HP:0000455	Broad nasal tip	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0000455	HP:0000455	Broad nasal tip	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000455	HP:0000455	Broad nasal tip	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0000455	HP:0000455	Broad nasal tip	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.	25
HP:0000455	HP:0000455	Broad nasal tip	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000455	HP:0000455	Broad nasal tip	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000455	HP:0000455	Broad nasal tip	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000455	HP:0000455	Broad nasal tip	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000455	HP:0000455	Broad nasal tip	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000455	HP:0000455	Broad nasal tip	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000455	HP:0000455	Broad nasal tip	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000455	HP:0000455	Broad nasal tip	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0000455	HP:0000455	Broad nasal tip	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000455	HP:0000455	Broad nasal tip	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0000455	HP:0000455	Broad nasal tip	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000455	HP:0000455	Broad nasal tip	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000455	HP:0000455	Broad nasal tip	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000455	HP:0000455	Broad nasal tip	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000455	HP:0000455	Broad nasal tip	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000455	HP:0000455	Broad nasal tip	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000455	HP:0000455	Broad nasal tip	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000455	HP:0000455	Broad nasal tip	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0000455	HP:0000455	Broad nasal tip	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000455	HP:0000455	Broad nasal tip	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000455	HP:0000455	Broad nasal tip	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0000455	HP:0000455	Broad nasal tip	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0000455	HP:0000455	Broad nasal tip	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0000455	HP:0000455	Broad nasal tip	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0000455	HP:0000455	Broad nasal tip	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent	144
HP:0000455	HP:0000455	Broad nasal tip	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:0000455	HP:0000455	Broad nasal tip	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000455	HP:0000455	Broad nasal tip	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0000455	HP:0000455	Broad nasal tip	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000455	HP:0000455	Broad nasal tip	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000455	HP:0000455	Broad nasal tip	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0000455	HP:0000455	Broad nasal tip	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0000455	HP:0000455	Broad nasal tip	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000455	HP:0000455	Broad nasal tip	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000455	HP:0000455	Broad nasal tip	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0000455	HP:0000455	Broad nasal tip	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000455	HP:0000455	Broad nasal tip	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0000455	HP:0000455	Broad nasal tip	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent	33
HP:0000455	HP:0000455	Broad nasal tip	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0000455	HP:0000455	Broad nasal tip	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000455	HP:0000455	Broad nasal tip	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000455	HP:0000455	Broad nasal tip	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000455	HP:0000455	Broad nasal tip	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0000455	HP:0000455	Broad nasal tip	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0000455	HP:0000455	Broad nasal tip	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0000455	HP:0000455	Broad nasal tip	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0000455	HP:0000455	Broad nasal tip	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000455	HP:0000455	Broad nasal tip	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000455	HP:0000455	Broad nasal tip	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000455	HP:0000455	Broad nasal tip	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000455	HP:0000455	Broad nasal tip	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0000455	HP:0000455	Broad nasal tip	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000455	HP:0000455	Broad nasal tip	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent	34
HP:0000455	HP:0000455	Broad nasal tip	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000455	HP:0000455	Broad nasal tip	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000455	HP:0000455	Broad nasal tip	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000455	HP:0000455	Broad nasal tip	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000455	HP:0000455	Broad nasal tip	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.	53
HP:0000455	HP:0000455	Broad nasal tip	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0000455	HP:0000455	Broad nasal tip	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000455	HP:0000455	Broad nasal tip	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0000455	HP:0000455	Broad nasal tip	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000455	HP:0000455	Broad nasal tip	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000455	HP:0000455	Broad nasal tip	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0000455	HP:0000455	Broad nasal tip	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000455	HP:0000455	Broad nasal tip	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000455	HP:0000455	Broad nasal tip	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000455	HP:0000455	Broad nasal tip	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000455	HP:0000455	Broad nasal tip	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000455	HP:0000455	Broad nasal tip	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000455	HP:0000455	Broad nasal tip	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0000455	HP:0000455	Broad nasal tip	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.	1
HP:0000455	HP:0000455	Broad nasal tip	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional	1
HP:0000455	HP:0000455	Broad nasal tip	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000455	HP:0000455	Broad nasal tip	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000455	HP:0000455	Broad nasal tip	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000455	HP:0000455	Broad nasal tip	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0000455	HP:0000455	Broad nasal tip	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0000455	HP:0000455	Broad nasal tip	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0000455	HP:0000455	Broad nasal tip	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0000455	HP:0000455	Broad nasal tip	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0000455	HP:0000455	Broad nasal tip	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0000455	HP:0000455	Broad nasal tip	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040281 - Very frequent	23
HP:0000455	HP:0000455	Broad nasal tip	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000455	HP:0000455	Broad nasal tip	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000455	HP:0000455	Broad nasal tip	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000455	HP:0000455	Broad nasal tip	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000455	HP:0000455	Broad nasal tip	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000455	HP:0000455	Broad nasal tip	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000455	HP:0000455	Broad nasal tip	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000455	HP:0000455	Broad nasal tip	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000455	HP:0000455	Broad nasal tip	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000455	HP:0000455	Broad nasal tip	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0000455	HP:0000455	Broad nasal tip	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0000455	HP:0000455	Broad nasal tip	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000455	HP:0000455	Broad nasal tip	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0000455	HP:0000455	Broad nasal tip	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0000455	HP:0000455	Broad nasal tip	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000455	HP:0000455	Broad nasal tip	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000455	HP:0000455	Broad nasal tip	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000455	HP:0000455	Broad nasal tip	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0000455	HP:0000455	Broad nasal tip	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000455	HP:0000455	Broad nasal tip	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000455	HP:0000455	Broad nasal tip	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	11
HP:0000455	HP:0000455	Broad nasal tip	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000455	HP:0000455	Broad nasal tip	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000455	HP:0000455	Broad nasal tip	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000455	HP:0000455	Broad nasal tip	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000455	HP:0000455	Broad nasal tip	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040281 - Very frequent	143
HP:0000455	HP:0000455	Broad nasal tip	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000455	HP:0000455	Broad nasal tip	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040281 - Very frequent	2
HP:0000455	HP:0000455	Broad nasal tip	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0000455	HP:0000455	Broad nasal tip	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0000455	HP:0000455	Broad nasal tip	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0000455	HP:0000455	Broad nasal tip	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0000455	HP:0000455	Broad nasal tip	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0000455	HP:0000455	Broad nasal tip	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000455	HP:0000455	Broad nasal tip	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000455	HP:0000455	Broad nasal tip	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0000455	HP:0000455	Broad nasal tip	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000455	HP:0000455	Broad nasal tip	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000455	HP:0000455	Broad nasal tip	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000455	HP:0000455	Broad nasal tip	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000455	HP:0000455	Broad nasal tip	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:0000455	HP:0000455	Broad nasal tip	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000455	HP:0000455	Broad nasal tip	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000455	HP:0000455	Broad nasal tip	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000455	HP:0000455	Broad nasal tip	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0000455	HP:0000455	Broad nasal tip	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000455	HP:0000455	Broad nasal tip	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000455	HP:0000455	Broad nasal tip	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0000455	HP:0000455	Broad nasal tip	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000455	HP:0000455	Broad nasal tip	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0000455	HP:0000455	Broad nasal tip	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000455	HP:0000455	Broad nasal tip	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0000455	HP:0000455	Broad nasal tip	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:0000455	HP:0000455	Broad nasal tip	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000455	HP:0000455	Broad nasal tip	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000455	HP:0000455	Broad nasal tip	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000455	HP:0000455	Broad nasal tip	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000455	HP:0000455	Broad nasal tip	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000455	HP:0000455	Broad nasal tip	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0000455	HP:0000455	Broad nasal tip	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5

Genes (143) :ABCC9 ADAMTS18 ADNP AGL AIFM1 ALX3 ALX4 APC ARID1A ARID1B ARID2 ARSL ASXL2 ASXL3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 BCOR BPTF CASK CCNK CCNQ CDC42BPB CDH11 CDK10 COG6 CPLANE1 CTCF CTNNB1 DOCK7 DPF2 DPYD DYRK1A EBF3 EIF2S3 ELN EXOSC2 EXT2 EXTL3 FAM149B1 FBXO28 FLNB FOXP1 GATAD2B GLB1 GPAA1 H4C3 H4C5 HDAC4 HDAC8 HNRNPK HRAS HS2ST1 HUWE1 IDUA IGF1R KAT6A KCNH1 KCNK9 KCNN3 KDM3B KDM6A KIAA0753 KIF11 KIF7 KNSTRN KPTN LAS1L LRP2 LTBP1 MAP3K7 MCTP2 METTL5 MLXIPL MYMK NACC1 NRAS NSD1 NXN OFD1 PDE6D PGAP2 PGAP3 PHF21A PHF8 PHIP PIGO PIGQ PIGV PIK3CD POC1A POGZ PORCN PPP2CA PRKAR1A PRKAR1B PRMT7 PTPRF PUF60 PURA QRICH1 RAB3GAP1 RAB3GAP2 RARB RNF135 RPS6KA3 RYR1 SATB2 SET SETBP1 SH3PXD2B SIX2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SNRPN SOX11 SOX4 SRCAP SUPT16H TAF1 TBC1D24 TBL1XR1 TBX2 TCTN3 TFAP2A TFAP2B TLK2 TMEM216 TOE1 TOPORS WAC WASHC4 XRCC4 YY1 ZBTB20 ZMYM2 ZSWIM6

Diseases (135) :OMIM:619719 OMIM:615458 OMIM:615873 OMIM:232400 OMIM:300232 OMIM:136760 ORPHA:52022 ORPHA:261584 ORPHA:1465 OMIM:135900 OMIM:617808 ORPHA:79345 OMIM:617190 OMIM:615485 ORPHA:357074 ORPHA:2834 ORPHA:79500 OMIM:617402 OMIM:300166 OMIM:617755 OMIM:300749 OMIM:618147 OMIM:300707 OMIM:619841 ORPHA:1299 OMIM:619736 OMIM:617694 ORPHA:363523 ORPHA:2754 OMIM:277170 ORPHA:363611 OMIM:615075 ORPHA:404473 ORPHA:411986 OMIM:615859 ORPHA:293948 ORPHA:268261 OMIM:617330 OMIM:300148 OMIM:194050 OMIM:617763 OMIM:617425 OMIM:619777 OMIM:272460 ORPHA:391372 OMIM:613670 OMIM:615074 ORPHA:363686 ORPHA:79255 ORPHA:529665 OMIM:619758 OMIM:619950 OMIM:600430 OMIM:300882 ORPHA:3459 ORPHA:352665 ORPHA:453504 OMIM:137550 OMIM:619194 OMIM:309590 OMIM:607014 ORPHA:73273 OMIM:616268 ORPHA:457193 OMIM:135500 ORPHA:166108 OMIM:618658 OMIM:618846 OMIM:300867 OMIM:152950 ORPHA:221139 OMIM:615637 OMIM:222448 OMIM:619451 OMIM:617137 ORPHA:1596 OMIM:618665 OMIM:254940 OMIM:617393 ORPHA:500545 OMIM:117550 OMIM:618529 OMIM:614207 OMIM:615716 OMIM:300263 ORPHA:85287 ORPHA:589905 OMIM:614749 OMIM:618548 OMIM:239300 OMIM:614813 OMIM:616364 ORPHA:468678 OMIM:305600 OMIM:618354 OMIM:101800 OMIM:619680 OMIM:617157 OMIM:616001 ORPHA:508488 ORPHA:438216 OMIM:617982 OMIM:619420 OMIM:212720 OMIM:615524 ORPHA:137634 OMIM:300844 OMIM:619542 OMIM:612313 OMIM:618106 ORPHA:798 OMIM:249420 ORPHA:488437 ORPHA:1830 OMIM:619995 ORPHA:177907 ORPHA:2044 OMIM:619480 OMIM:300966 ORPHA:480907 OMIM:602342 OMIM:618223 ORPHA:1297 OMIM:113620 OMIM:169100 OMIM:618050 OMIM:614969 ORPHA:466950 OMIM:615817 OMIM:616541 OMIM:617557 OMIM:259050 OMIM:619522 OMIM:603671 ORPHA:1827

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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