Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nose (HP:0000366)help
Parent Node:
expand
Abnormal nasal morphology (HP:0005105)help
..Starting node
..expand
Wide nose (HP:0000445)help
Term ID: 445
Name: Wide nose
Synonym: Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose
Definition: Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Comments:
Reference: HP:0000445
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnteverted nares (HP:0000463) help
..expandAplasia/Hypoplasia involving the nose (HP:0009924) help
..expandBulbous nose (HP:0000414) help
..expandFullness of paranasal tissue (HP:0012812) help
..expandLong nose (HP:0003189) help
..expandMidline defect of the nose (HP:0004122) help
..expandNarrow nose (HP:0000460) help
..expandPear-shaped nose (HP:0000447) help
..expandProboscis (HP:0012806) help
..expandProminent nose (HP:0000448) help
..expandPyriform aperture stenosis (HP:0025011) help
..expandShort nose (HP:0003196) help
..expandSlender nose (HP:0000417) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000445HP:0000445Wide nose0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000445HP:0000445Wide nose0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000445HP:0000445Wide nose0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM11719717110607512
HP:0000445HP:0000445Wide nose0AIP CL E G H9049963ORPHA1112273358605555
HP:0000445HP:0000445Wide nose0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000445HP:0000445Wide nose0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1493854606939
HP:0000445HP:0000445Wide nose0AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM18369894192340
HP:0000445HP:0000445Wide nose0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000445HP:0000445Wide nose0CAMTA1 CL E G H23261314647ORPHA11123218806611501
HP:0000445HP:0000445Wide nose0CDKL5 CL E G H67923095ORPHA1388104611411300203
HP:0000445HP:0000445Wide nose0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0000445HP:0000445Wide nose0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA142517412607672
HP:0000445HP:0000445Wide nose0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000445HP:0000445Wide nose0COX7B CL E G H13492556ORPHA151642291300885
HP:0000445HP:0000445Wide nose0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137562364604237
HP:0000445HP:0000445Wide nose0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA137562364604237
HP:0000445HP:0000445Wide nose0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0000445HP:0000445Wide nose0DVL1 CL E G H18553107ORPHA1192443084601365
HP:0000445HP:0000445Wide nose0DVL3 CL E G H18573107ORPHA115773087601368
HP:0000445HP:0000445Wide nose0DYNC2H1 CL E G H7965993271ORPHA12078892962603297
HP:0000445HP:0000445Wide nose0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000445HP:0000445Wide nose0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0000445HP:0000445Wide nose0FOXG1 CL E G H22903095ORPHA11693573811164874
HP:0000445HP:0000445Wide nose0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000445HP:0000445Wide nose0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000445HP:0000445Wide nose0FZD2 CL E G H25353107ORPHA17304040600667
HP:0000445HP:0000445Wide nose0GABBR2 CL E G H95683095ORPHA182094507607340
HP:0000445HP:0000445Wide nose0GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM159984220601146
HP:0000445HP:0000445Wide nose0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000445HP:0000445Wide nose0GRIP1 CL E G H23426617667FRASER SYNDROME 3617667C4540040OMIM11815918708604597
HP:0000445HP:0000445Wide nose0HCCS CL E G H30522556ORPHA1142014837300056
HP:0000445HP:0000445Wide nose0IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0000445HP:0000445Wide nose0IFT80 CL E G H5756093271ORPHA11321129262611177
HP:0000445HP:0000445Wide nose0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000445HP:0000445Wide nose0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0000445HP:0000445Wide nose0KCNH1 CL E G H37563473MeningoencephaloceleORPHA113916250603305
HP:0000445HP:0000445Wide nose0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0000445HP:0000445Wide nose0KIF22 CL E G H383593360ORPHA142726391603213
HP:0000445HP:0000445Wide nose0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0000445HP:0000445Wide nose0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0000445HP:0000445Wide nose0MECP2 CL E G H42043095ORPHA1105014426990300005
HP:0000445HP:0000445Wide nose0MGP CL E G H425685202ORPHA112817060154870
HP:0000445HP:0000445Wide nose0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0000445HP:0000445Wide nose0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000445HP:0000445Wide nose0NDUFB11 CL E G H545392556ORPHA1616320372300403
HP:0000445HP:0000445Wide nose0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0000445HP:0000445Wide nose0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000445HP:0000445Wide nose0NTNG1 CL E G H228543095ORPHA143023319608818
HP:0000445HP:0000445Wide nose0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000445HP:0000445Wide nose0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000445HP:0000445Wide nose0PAFAH1B1 CL E G H5048217385ORPHA11702558574601545
HP:0000445HP:0000445Wide nose0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0000445HP:0000445Wide nose0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM192524713617387
HP:0000445HP:0000445Wide nose0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000445HP:0000445Wide nose0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000445HP:0000445Wide nose0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000445HP:0000445Wide nose0SEC23A CL E G H1048450814ORPHA144810701610511
HP:0000445HP:0000445Wide nose0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000445HP:0000445Wide nose0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0000445HP:0000445Wide nose0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0000445HP:0000445Wide nose0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000445HP:0000445Wide nose0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0000445HP:0000445Wide nose0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0000445HP:0000445Wide nose0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM115529111364102582
HP:0000445HP:0000445Wide nose0STXBP1 CL E G H68123095ORPHA119553811444602926
HP:0000445HP:0000445Wide nose0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000445HP:0000445Wide nose0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0000445HP:0000445Wide nose0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0000445HP:0000445Wide nose0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0000445HP:0000445Wide nose0TRMT10A CL E G H93587616033Microcephaly, short stature, and impaired glucose metabolism 1616033C4014997OMIM182928403616013
HP:0000445HP:0000445Wide nose0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0000445HP:0000445Wide nose0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000445HP:0000445Wide nose0WDR34 CL E G H8989193271ORPHA12128296613363
HP:0000445HP:0000445Wide nose0WDR35 CL E G H5753993271ORPHA13129229250613602
HP:0000445HP:0000445Wide nose0WDR60 CL E G H5511293271ORPHA11321862615462
HP:0000445HP:0000445Wide nose0WNT5A CL E G H74743107ORPHA1115812784164975
HP:0000445HP:0000445Wide nose0YWHAE CL E G H7531217385ORPHA14414612851605066
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000445HP:0000445Wide nose0ACY1 CL E G H95137754ORPHA01557177104620
HP:0000445HP:0000445Wide nose0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM0449757600582
HP:0000445HP:0000445Wide nose0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA020851148602452
HP:0000445HP:0000445Wide nose0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0293231149602860
HP:0000445HP:0000445Wide nose0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA06491151603719
HP:0000445HP:0000445Wide nose0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0515530794607951
HP:0000445HP:0000445Wide nose0HMGA2 CL E G H809194063ORPHA021235009600698
HP:0000445HP:0000445Wide nose0KIF11 CL E G H38322526ORPHA0701726388148760
HP:0000445HP:0000445Wide nose0LEMD3 CL E G H2359294063ORPHA03413828887607844
HP:0000445HP:0000445Wide nose0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065820199588601728
HP:0000445HP:0000445Wide nose0RPS6KA3 CL E G H6197276630ORPHA017130910432300075
HP:0000445HP:0000445Wide nose0TBX1 CL E G H68991727ORPHA08255311592602054
HP:0000445HP:0000445Wide nose0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0216212307604507


Genes (82) :ACTB ACTG1 ACY1 ADAMTS18 AIP ARID1A ASPH ATP6V1B2 AVP BUB1 BUB1B BUB3 CAMTA1 CDKL5 CEP57 CKAP2L CLCF1 COG7 COX7B CRLF1 DONSON DVL1 DVL3 DYNC2H1 FGFR1 FHL1 FOXG1 FRAS1 FUCA1 FZD2 GABBR2 GDF5 GPR101 GRIP1 HCCS HMGA2 IDUA IFT80 KAT6B KCNH1 KIF11 KIF22 KMT2A LARP7 LEMD3 MECP2 MGP MOGS NANS NDUFB11 NOTCH2 NTNG1 OFD1 OTUD6B PAFAH1B1 PAM16 PTEN QRICH1 RNF125 RPS6KA3 SEC23A SIN3A SKIV2L SMARCA4 SMARCB1 SMARCE1 STAMBP STAT3 STXBP1 TBL1XR1 TBX1 TCTN3 TMCO1 TRIP13 TRMT10A TTC37 VPS33A WDR34 WDR35 WDR60 WNT5A YWHAE

Diseases (66) :2995 137754 615458 963 614607 601552 3473 125700 1052 257300 314647 3095 3255 1545 608779 2556 272430 251230 3107 93271 615465 300280 219000 230000 610017 617667 94063 607016 85201 606170 611816 2526 93360 605130 615071 85202 606056 610442 955 102500 300209 505237 217385 613320 109 617982 616260 276630 303600 192 50814 613406 614602 614609 614608 616938 614261 147060 602342 1727 2753 1394 213980 616033 222470 617303
 

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