Human Phenotype Ontology 
Grandparent Node:
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Abnormal nasal morphology (HP:0005105)help
Grandparent Node:
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Abnormality of the nares (HP:0005288)help
Grandparent Node:
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Abnormality of the nasal alae (HP:0000429)help
Parent Node:
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Abnormality of the nasal tip (HP:0000436)help
Parent Node:
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Anteverted nares (HP:0000463)help
..Starting node
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Broad nasal tip (HP:0000455)help
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: 
..expandThin anteverted nares (HP:0004495) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000455HP:0000455Broad nasal tip0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM11719717110607512
HP:0000455HP:0000455Broad nasal tip0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0000455HP:0000455Broad nasal tip0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000455HP:0000455Broad nasal tip0ALX4 CL E G H6052952022ORPHA127221450605420
HP:0000455HP:0000455Broad nasal tip0APC CL E G H324261584ORPHA119517734583611731
HP:0000455HP:0000455Broad nasal tip0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000455HP:0000455Broad nasal tip0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0000455HP:0000455Broad nasal tip0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000455HP:0000455Broad nasal tip0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0000455HP:0000455Broad nasal tip0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0000455HP:0000455Broad nasal tip0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0000455HP:0000455Broad nasal tip0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0000455HP:0000455Broad nasal tip0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0000455HP:0000455Broad nasal tip0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0000455HP:0000455Broad nasal tip0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000455HP:0000455Broad nasal tip0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0000455HP:0000455Broad nasal tip0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0000455HP:0000455Broad nasal tip0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000455HP:0000455Broad nasal tip0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM11122828434300708
HP:0000455HP:0000455Broad nasal tip0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000455HP:0000455Broad nasal tip0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0000455HP:0000455Broad nasal tip0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000455HP:0000455Broad nasal tip0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000455HP:0000455Broad nasal tip0DPYD CL E G H1806293948ORPHA11242853012612779
HP:0000455HP:0000455Broad nasal tip0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000455HP:0000455Broad nasal tip0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000455HP:0000455Broad nasal tip0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000455HP:0000455Broad nasal tip0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000455HP:0000455Broad nasal tip0EXT2 CL E G H213252022ORPHA12582753513608210
HP:0000455HP:0000455Broad nasal tip0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0000455HP:0000455Broad nasal tip0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0000455HP:0000455Broad nasal tip0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000455HP:0000455Broad nasal tip0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0000455HP:0000455Broad nasal tip0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000455HP:0000455Broad nasal tip0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM1342955173190020
HP:0000455HP:0000455Broad nasal tip0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000455HP:0000455Broad nasal tip0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0000455HP:0000455Broad nasal tip0KAT6A CL E G H7994457193ORPHA12921913013601408
HP:0000455HP:0000455Broad nasal tip0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0000455HP:0000455Broad nasal tip0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM18131112637300128
HP:0000455HP:0000455Broad nasal tip0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0000455HP:0000455Broad nasal tip0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000455HP:0000455Broad nasal tip0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0000455HP:0000455Broad nasal tip0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM15686404615620
HP:0000455HP:0000455Broad nasal tip0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0000455HP:0000455Broad nasal tip0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0000455HP:0000455Broad nasal tip0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0000455HP:0000455Broad nasal tip0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM113646859602614
HP:0000455HP:0000455Broad nasal tip0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000455HP:0000455Broad nasal tip0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000455HP:0000455Broad nasal tip0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000455HP:0000455Broad nasal tip0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0000455HP:0000455Broad nasal tip0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM1141817989164790
HP:0000455HP:0000455Broad nasal tip0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0000455HP:0000455Broad nasal tip0PDE6D CL E G H51472754ORPHA11398788602676
HP:0000455HP:0000455Broad nasal tip0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM175217893615187
HP:0000455HP:0000455Broad nasal tip0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM1186023719611801
HP:0000455HP:0000455Broad nasal tip0PHF21A CL E G H5131752022ORPHA1123524156608325
HP:0000455HP:0000455Broad nasal tip0PHF8 CL E G H2313385287ORPHA11620820672300560
HP:0000455HP:0000455Broad nasal tip0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM11620820672300560
HP:0000455HP:0000455Broad nasal tip0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0000455HP:0000455Broad nasal tip0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000455HP:0000455Broad nasal tip0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000455HP:0000455Broad nasal tip0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000455HP:0000455Broad nasal tip0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1117325557610087
HP:0000455HP:0000455Broad nasal tip0PTPRF CL E G H5792616001Breasts and/or nipples, aplasia or hypoplasia of, 2616001C4014918OMIM18479670179590
HP:0000455HP:0000455Broad nasal tip0PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0000455HP:0000455Broad nasal tip0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM192524713617387
HP:0000455HP:0000455Broad nasal tip0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000455HP:0000455Broad nasal tip0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM16599865180220
HP:0000455HP:0000455Broad nasal tip0RNF135 CL E G H84282137634ORPHA188921158611358
HP:0000455HP:0000455Broad nasal tip0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM117130910432300075
HP:0000455HP:0000455Broad nasal tip0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000455HP:0000455Broad nasal tip0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000455HP:0000455Broad nasal tip0SIX2 CL E G H10736488437ORPHA192010888604994
HP:0000455HP:0000455Broad nasal tip0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM11724011535313650
HP:0000455HP:0000455Broad nasal tip0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM1155311597600747
HP:0000455HP:0000455Broad nasal tip0TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0000455HP:0000455Broad nasal tip0TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000455HP:0000455Broad nasal tip0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000455HP:0000455Broad nasal tip0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM1155711743601601
HP:0000455HP:0000455Broad nasal tip0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0000455HP:0000455Broad nasal tip0TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0000455HP:0000455Broad nasal tip0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0000455HP:0000455Broad nasal tip0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0000455HP:0000455Broad nasal tip0ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000455HP:0000455Broad nasal tip0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000455HP:0000455Broad nasal tip0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0000455HP:0000455Broad nasal tip0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM0149630778614998
HP:0000455HP:0000455Broad nasal tip0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM01611226031610274
HP:0000455HP:0000455Broad nasal tip0TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0000455HP:0000455Broad nasal tip0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628


Genes (83) :ADAMTS18 ADNP AGL ALX3 ALX4 APC ARID1B ARID2 ASXL2 ASXL3 ATP6V0A2 ATP6V1A ATP6V1E1 BCOR BPTF CASK CCNK CCNQ CDH11 CDK10 CPLANE1 DOCK7 DPYD EBF3 EIF2S3 ELN EXOSC2 EXT2 EXTL3 FLNB FOXP1 GATAD2B HDAC8 HRAS IDUA IGF1R KAT6A KDM6A KIAA0753 KIF11 KIF7 KPTN LAS1L LRP2 MAP3K7 MCTP2 MLXIPL MYMK NACC1 NRAS OFD1 PDE6D PGAP2 PGAP3 PHF21A PHF8 PIGO PIGV POGZ PORCN PRKAR1A PRMT7 PTPRF PUF60 QRICH1 RAB3GAP2 RARB RNF135 RPS6KA3 SETBP1 SH3PXD2B SIX2 TAF1 TBC1D24 TBL1XR1 TBX2 TCTN3 TFAP2A TFAP2B TLK2 TMEM216 XRCC4 ZSWIM6

Diseases (79) :615458 615873 232400 136760 52022 261584 135900 617808 617190 615485 2834 357074 617402 300166 617755 300749 618147 300707 1299 617694 2754 277170 615859 293948 617330 300148 194050 617763 617425 272460 613670 615074 3459 300882 137550 607014 73273 457193 616268 300867 152950 615637 309585 222448 617137 1596 254940 617393 614207 615716 85287 300263 614749 239300 616364 305600 101800 617157 616001 508488 617982 212720 615524 137634 300844 798 249420 488437 300966 79500 602342 618223 1297 113620 169100 618050 616541 603671 1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.