Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the nose (HP:0000366)help
..Starting node
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Abnormal nasal bridge morphology (HP:0000422)help
Term ID: 422
Name: Abnormal nasal bridge morphology
Synonym: Abnormality of the bridge of the nose; Abnormality of the nasal bridge; Abnormality of the nasal root; Deformity of the bridge of the nose; Deformity of the nasal bridge; Malformation of the bridge of the nose; Malformation of the nasal bridge
Definition: Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
Comments:
Reference: HP:0000422
Genes and Diseases:
 
       Child Nodes:
........expandProminent nasal bridge (HP:0000426) help
........expandWide nasal bridge (HP:0000431) help
........expandNarrow nasal bridge (HP:0000446) help
........expandShort nasal bridge (HP:0003194) help
........expandDepressed nasal bridge (HP:0005280) help
........expandHypoplastic nasal bridge (HP:0005281) help
........expandAbsent nasal bridge (HP:0005285) help

 Sister Nodes: 
..expandAbnormal external nose morphology (HP:0010938) help
..expandAbnormal nasal base norphology (HP:0012808) help
..expandAbnormal nasal morphology (HP:0005105) help
..expandAbnormal nasal mucosa morphology (HP:0000433) help
..expandAbnormal nasal septum morphology (HP:0000419) help
..expandAbnormal nasal skeleton morphology (HP:0010937) help
..expandAbnormal nasopharynx morphology (HP:0001739) help
..expandAbnormal nostril morphology (HP:0005288) help
..expandAbnormality of nasal hair (HP:0040057) help
..expandAbnormality of nasalis muscle (HP:3000009) help
..expandAbnormality of procerus muscle (HP:3000014) help
..expandAbnormality of the choanae (HP:0000415) help
..expandAbnormality of the nasal cavity (HP:0010640) help
..expandAbnormality of the nasolabial region (HP:0005289) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandEpistaxis (HP:0000421) help
..expandNasal congestion (HP:0001742) help
..expandRhinitis (HP:0012384) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000422HP:0000422Abnormal nasal bridge morphology0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0000422HP:0000422Abnormal nasal bridge morphology0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0000422HP:0000422Abnormal nasal bridge morphology0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans34
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathy23
HP:0000422HP:0000422Abnormal nasal bridge morphology0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency13
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome165
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome72
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000422HP:0000422Abnormal nasal bridge morphology0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000422HP:0000422Abnormal nasal bridge morphology0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0000422HP:0000422Abnormal nasal bridge morphology0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000422HP:0000422Abnormal nasal bridge morphology0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0000422HP:0000422Abnormal nasal bridge morphology0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0000422HP:0000422Abnormal nasal bridge morphology0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0000422HP:0000422Abnormal nasal bridge morphology0AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0000422HP:0000422Abnormal nasal bridge morphology0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0000422HP:0000422Abnormal nasal bridge morphology0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0000422HP:0000422Abnormal nasal bridge morphology0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0000422HP:0000422Abnormal nasal bridge morphology0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0000422HP:0000422Abnormal nasal bridge morphology0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000422HP:0000422Abnormal nasal bridge morphology0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0000422HP:0000422Abnormal nasal bridge morphology0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency35
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 35
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX4 CL E G H60529450OMIM:609597Parietal foramina 2132
HP:0000422HP:0000422Abnormal nasal bridge morphology0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndrome132
HP:0000422HP:0000422Abnormal nasal bridge morphology0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000422HP:0000422Abnormal nasal bridge morphology0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000422HP:0000422Abnormal nasal bridge morphology0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0000422HP:0000422Abnormal nasal bridge morphology0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasia164
HP:0000422HP:0000422Abnormal nasal bridge morphology0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000422HP:0000422Abnormal nasal bridge morphology0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000422HP:0000422Abnormal nasal bridge morphology0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0000422HP:0000422Abnormal nasal bridge morphology0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000422HP:0000422Abnormal nasal bridge morphology0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0000422HP:0000422Abnormal nasal bridge morphology0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0000422HP:0000422Abnormal nasal bridge morphology0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0000422HP:0000422Abnormal nasal bridge morphology0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0000422HP:0000422Abnormal nasal bridge morphology0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0000422HP:0000422Abnormal nasal bridge morphology0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000422HP:0000422Abnormal nasal bridge morphology0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000422HP:0000422Abnormal nasal bridge morphology0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0000422HP:0000422Abnormal nasal bridge morphology0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0000422HP:0000422Abnormal nasal bridge morphology0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000422HP:0000422Abnormal nasal bridge morphology0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency4
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000422HP:0000422Abnormal nasal bridge morphology0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000422HP:0000422Abnormal nasal bridge morphology0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0000422HP:0000422Abnormal nasal bridge morphology0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0000422HP:0000422Abnormal nasal bridge morphology0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0000422HP:0000422Abnormal nasal bridge morphology0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000422HP:0000422Abnormal nasal bridge morphology0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000422HP:0000422Abnormal nasal bridge morphology0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000422HP:0000422Abnormal nasal bridge morphology0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0000422HP:0000422Abnormal nasal bridge morphology0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000422HP:0000422Abnormal nasal bridge morphology0B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0000422HP:0000422Abnormal nasal bridge morphology0B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0000422HP:0000422Abnormal nasal bridge morphology0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0000422HP:0000422Abnormal nasal bridge morphology0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000422HP:0000422Abnormal nasal bridge morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000422HP:0000422Abnormal nasal bridge morphology0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0000422HP:0000422Abnormal nasal bridge morphology0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0000422HP:0000422Abnormal nasal bridge morphology0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000422HP:0000422Abnormal nasal bridge morphology0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0000422HP:0000422Abnormal nasal bridge morphology0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0000422HP:0000422Abnormal nasal bridge morphology0BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndrome90
HP:0000422HP:0000422Abnormal nasal bridge morphology0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type
HP:0000422HP:0000422Abnormal nasal bridge morphology0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0000422HP:0000422Abnormal nasal bridge morphology0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0000422HP:0000422Abnormal nasal bridge morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0000422HP:0000422Abnormal nasal bridge morphology0CACNA1C CL E G H7751390OMIM:620029572
HP:0000422HP:0000422Abnormal nasal bridge morphology0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0000422HP:0000422Abnormal nasal bridge morphology0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000422HP:0000422Abnormal nasal bridge morphology0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0000422HP:0000422Abnormal nasal bridge morphology0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0000422HP:0000422Abnormal nasal bridge morphology0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0000422HP:0000422Abnormal nasal bridge morphology0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000422HP:0000422Abnormal nasal bridge morphology0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0000422HP:0000422Abnormal nasal bridge morphology0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0000422HP:0000422Abnormal nasal bridge morphology0CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0000422HP:0000422Abnormal nasal bridge morphology0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0000422HP:0000422Abnormal nasal bridge morphology0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0000422HP:0000422Abnormal nasal bridge morphology0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0000422HP:0000422Abnormal nasal bridge morphology0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies3
HP:0000422HP:0000422Abnormal nasal bridge morphology0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0000422HP:0000422Abnormal nasal bridge morphology0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDC42BPB CL E G H95781738OMIM:619841
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDCA7 CL E G H8387914628ORPHA:2268ICF syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndrome114
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0000422HP:0000422Abnormal nasal bridge morphology0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0000422HP:0000422Abnormal nasal bridge morphology0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0000422HP:0000422Abnormal nasal bridge morphology0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000422HP:0000422Abnormal nasal bridge morphology0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0000422HP:0000422Abnormal nasal bridge morphology0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHD5 CL E G H2603816816OMIM:619873
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0000422HP:0000422Abnormal nasal bridge morphology0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000422HP:0000422Abnormal nasal bridge morphology0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000422HP:0000422Abnormal nasal bridge morphology0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 107
HP:0000422HP:0000422Abnormal nasal bridge morphology0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0000422HP:0000422Abnormal nasal bridge morphology0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0000422HP:0000422Abnormal nasal bridge morphology0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0000422HP:0000422Abnormal nasal bridge morphology0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0000422HP:0000422Abnormal nasal bridge morphology0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0000422HP:0000422Abnormal nasal bridge morphology0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0000422HP:0000422Abnormal nasal bridge morphology0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0000422HP:0000422Abnormal nasal bridge morphology0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson type67
HP:0000422HP:0000422Abnormal nasal bridge morphology0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome67
HP:0000422HP:0000422Abnormal nasal bridge morphology0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0000422HP:0000422Abnormal nasal bridge morphology0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III222
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndrome177
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL27A1 CL E G H8530122986OMIM:615155Steel syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance type284
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000422HP:0000422Abnormal nasal bridge morphology0COL9A3 CL E G H12992219OMIM:620022137
HP:0000422HP:0000422Abnormal nasal bridge morphology0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0000422HP:0000422Abnormal nasal bridge morphology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000422HP:0000422Abnormal nasal bridge morphology0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000422HP:0000422Abnormal nasal bridge morphology0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0000422HP:0000422Abnormal nasal bridge morphology0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000422HP:0000422Abnormal nasal bridge morphology0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000422HP:0000422Abnormal nasal bridge morphology0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000422HP:0000422Abnormal nasal bridge morphology0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0000422HP:0000422Abnormal nasal bridge morphology0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0000422HP:0000422Abnormal nasal bridge morphology0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000422HP:0000422Abnormal nasal bridge morphology0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0000422HP:0000422Abnormal nasal bridge morphology0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000422HP:0000422Abnormal nasal bridge morphology0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0000422HP:0000422Abnormal nasal bridge morphology0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0000422HP:0000422Abnormal nasal bridge morphology0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000422HP:0000422Abnormal nasal bridge morphology0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0000422HP:0000422Abnormal nasal bridge morphology0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0000422HP:0000422Abnormal nasal bridge morphology0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0000422HP:0000422Abnormal nasal bridge morphology0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0000422HP:0000422Abnormal nasal bridge morphology0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000422HP:0000422Abnormal nasal bridge morphology0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0000422HP:0000422Abnormal nasal bridge morphology0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000422HP:0000422Abnormal nasal bridge morphology0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHCR24 CL E G H17182859ORPHA:35107Desmosterolosis72
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000422HP:0000422Abnormal nasal bridge morphology0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0000422HP:0000422Abnormal nasal bridge morphology0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor670
HP:0000422HP:0000422Abnormal nasal bridge morphology0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0000422HP:0000422Abnormal nasal bridge morphology0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0000422HP:0000422Abnormal nasal bridge morphology0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0000422HP:0000422Abnormal nasal bridge morphology0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000422HP:0000422Abnormal nasal bridge morphology0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000422HP:0000422Abnormal nasal bridge morphology0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000422HP:0000422Abnormal nasal bridge morphology0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0000422HP:0000422Abnormal nasal bridge morphology0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosis45
HP:0000422HP:0000422Abnormal nasal bridge morphology0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0000422HP:0000422Abnormal nasal bridge morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0DNMT3B CL E G H17892979ORPHA:2268ICF syndrome79
HP:0000422HP:0000422Abnormal nasal bridge morphology0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0000422HP:0000422Abnormal nasal bridge morphology0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 218
HP:0000422HP:0000422Abnormal nasal bridge morphology0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPH5 CL E G H5161124270OMIM:620070
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0000422HP:0000422Abnormal nasal bridge morphology0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000422HP:0000422Abnormal nasal bridge morphology0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesis121
HP:0000422HP:0000422Abnormal nasal bridge morphology0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesis11
HP:0000422HP:0000422Abnormal nasal bridge morphology0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0000422HP:0000422Abnormal nasal bridge morphology0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000422HP:0000422Abnormal nasal bridge morphology0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000422HP:0000422Abnormal nasal bridge morphology0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000422HP:0000422Abnormal nasal bridge morphology0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000422HP:0000422Abnormal nasal bridge morphology0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0000422HP:0000422Abnormal nasal bridge morphology0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000422HP:0000422Abnormal nasal bridge morphology0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000422HP:0000422Abnormal nasal bridge morphology0EBP CL E G H106823133OMIM:300960Mend syndrome51
HP:0000422HP:0000422Abnormal nasal bridge morphology0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000422HP:0000422Abnormal nasal bridge morphology0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction13
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndrome67
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0000422HP:0000422Abnormal nasal bridge morphology0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndrome55
HP:0000422HP:0000422Abnormal nasal bridge morphology0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0000422HP:0000422Abnormal nasal bridge morphology0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB45
HP:0000422HP:0000422Abnormal nasal bridge morphology0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0000422HP:0000422Abnormal nasal bridge morphology0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0000422HP:0000422Abnormal nasal bridge morphology0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0000422HP:0000422Abnormal nasal bridge morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000422HP:0000422Abnormal nasal bridge morphology0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000422HP:0000422Abnormal nasal bridge morphology0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000422HP:0000422Abnormal nasal bridge morphology0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000422HP:0000422Abnormal nasal bridge morphology0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERF CL E G H20773444OMIM:617180Chitayat syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0000422HP:0000422Abnormal nasal bridge morphology0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000422HP:0000422Abnormal nasal bridge morphology0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0000422HP:0000422Abnormal nasal bridge morphology0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0000422HP:0000422Abnormal nasal bridge morphology0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndrome102
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0000422HP:0000422Abnormal nasal bridge morphology0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndrome135
HP:0000422HP:0000422Abnormal nasal bridge morphology0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0000422HP:0000422Abnormal nasal bridge morphology0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0000422HP:0000422Abnormal nasal bridge morphology0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0000422HP:0000422Abnormal nasal bridge morphology0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0000422HP:0000422Abnormal nasal bridge morphology0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000422HP:0000422Abnormal nasal bridge morphology0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000422HP:0000422Abnormal nasal bridge morphology0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000422HP:0000422Abnormal nasal bridge morphology0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000422HP:0000422Abnormal nasal bridge morphology0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000422HP:0000422Abnormal nasal bridge morphology0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000422HP:0000422Abnormal nasal bridge morphology0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndrome172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephaly172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0000422HP:0000422Abnormal nasal bridge morphology0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0FH CL E G H22713700OMIM:606812Fumarase deficiency301
HP:0000422HP:0000422Abnormal nasal bridge morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia493
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNB CL E G H23173755OMIM:112310Boomerang dysplasia233
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0000422HP:0000422Abnormal nasal bridge morphology0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOCAD CL E G H5491423377OMIM:6199913
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0000422HP:0000422Abnormal nasal bridge morphology0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus92
HP:0000422HP:0000422Abnormal nasal bridge morphology0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000422HP:0000422Abnormal nasal bridge morphology0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0000422HP:0000422Abnormal nasal bridge morphology0FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephaly198
HP:0000422HP:0000422Abnormal nasal bridge morphology0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0000422HP:0000422Abnormal nasal bridge morphology0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000422HP:0000422Abnormal nasal bridge morphology0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0000422HP:0000422Abnormal nasal bridge morphology0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000422HP:0000422Abnormal nasal bridge morphology0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 13
HP:0000422HP:0000422Abnormal nasal bridge morphology0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0000422HP:0000422Abnormal nasal bridge morphology0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0000422HP:0000422Abnormal nasal bridge morphology0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0000422HP:0000422Abnormal nasal bridge morphology0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0000422HP:0000422Abnormal nasal bridge morphology0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000422HP:0000422Abnormal nasal bridge morphology0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000422HP:0000422Abnormal nasal bridge morphology0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0000422HP:0000422Abnormal nasal bridge morphology0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0000422HP:0000422Abnormal nasal bridge morphology0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0000422HP:0000422Abnormal nasal bridge morphology0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0000422HP:0000422Abnormal nasal bridge morphology0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher disease
HP:0000422HP:0000422Abnormal nasal bridge morphology0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0000422HP:0000422Abnormal nasal bridge morphology0GDF5 CL E G H82004220ORPHA:2639Fibular aplasia-complex brachydactyly syndrome52
HP:0000422HP:0000422Abnormal nasal bridge morphology0GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0000422HP:0000422Abnormal nasal bridge morphology0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasia68
HP:0000422HP:0000422Abnormal nasal bridge morphology0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0000422HP:0000422Abnormal nasal bridge morphology0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0000422HP:0000422Abnormal nasal bridge morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000422HP:0000422Abnormal nasal bridge morphology0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000422HP:0000422Abnormal nasal bridge morphology0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0000422HP:0000422Abnormal nasal bridge morphology0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0000422HP:0000422Abnormal nasal bridge morphology0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC101
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM101
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 258
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0000422HP:0000422Abnormal nasal bridge morphology0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000422HP:0000422Abnormal nasal bridge morphology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasia99
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPC6 CL E G H100824454OMIM:258315Omodysplasia 199
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPRASP2 CL E G H11492825169OMIM:301018Deafness, X-linked 7
HP:0000422HP:0000422Abnormal nasal bridge morphology0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0000422HP:0000422Abnormal nasal bridge morphology0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0000422HP:0000422Abnormal nasal bridge morphology0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0000422HP:0000422Abnormal nasal bridge morphology0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0000422HP:0000422Abnormal nasal bridge morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0000422HP:0000422Abnormal nasal bridge morphology0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000422HP:0000422Abnormal nasal bridge morphology0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000422HP:0000422Abnormal nasal bridge morphology0H4C5 CL E G H83674790OMIM:619950
HP:0000422HP:0000422Abnormal nasal bridge morphology0H4C9 CL E G H82944793OMIM:619951
HP:0000422HP:0000422Abnormal nasal bridge morphology0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0000422HP:0000422Abnormal nasal bridge morphology0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0000422HP:0000422Abnormal nasal bridge morphology0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0000422HP:0000422Abnormal nasal bridge morphology0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0000422HP:0000422Abnormal nasal bridge morphology0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000422HP:0000422Abnormal nasal bridge morphology0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000422HP:0000422Abnormal nasal bridge morphology0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000422HP:0000422Abnormal nasal bridge morphology0HELLS CL E G H30704861ORPHA:2268ICF syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0000422HP:0000422Abnormal nasal bridge morphology0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation16
HP:0000422HP:0000422Abnormal nasal bridge morphology0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000422HP:0000422Abnormal nasal bridge morphology0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000422HP:0000422Abnormal nasal bridge morphology0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosis10
HP:0000422HP:0000422Abnormal nasal bridge morphology0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0000422HP:0000422Abnormal nasal bridge morphology0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0000422HP:0000422Abnormal nasal bridge morphology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000422HP:0000422Abnormal nasal bridge morphology0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000422HP:0000422Abnormal nasal bridge morphology0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000422HP:0000422Abnormal nasal bridge morphology0HNRNPR CL E G H102365047OMIM:620073
HP:0000422HP:0000422Abnormal nasal bridge morphology0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000422HP:0000422Abnormal nasal bridge morphology0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0000422HP:0000422Abnormal nasal bridge morphology0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0000422HP:0000422Abnormal nasal bridge morphology0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000422HP:0000422Abnormal nasal bridge morphology0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0000422HP:0000422Abnormal nasal bridge morphology0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000422HP:0000422Abnormal nasal bridge morphology0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0000422HP:0000422Abnormal nasal bridge morphology0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0000422HP:0000422Abnormal nasal bridge morphology0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0000422HP:0000422Abnormal nasal bridge morphology0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0000422HP:0000422Abnormal nasal bridge morphology0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000422HP:0000422Abnormal nasal bridge morphology0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000422HP:0000422Abnormal nasal bridge morphology0HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0000422HP:0000422Abnormal nasal bridge morphology0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0000422HP:0000422Abnormal nasal bridge morphology0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0000422HP:0000422Abnormal nasal bridge morphology0IDUA CL E G H34255391OMIM:607016Scheie syndrome115
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0000422HP:0000422Abnormal nasal bridge morphology0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0000422HP:0000422Abnormal nasal bridge morphology0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000422HP:0000422Abnormal nasal bridge morphology0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistance268
HP:0000422HP:0000422Abnormal nasal bridge morphology0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000422HP:0000422Abnormal nasal bridge morphology0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000422HP:0000422Abnormal nasal bridge morphology0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000422HP:0000422Abnormal nasal bridge morphology0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0000422HP:0000422Abnormal nasal bridge morphology0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0000422HP:0000422Abnormal nasal bridge morphology0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0000422HP:0000422Abnormal nasal bridge morphology0INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0000422HP:0000422Abnormal nasal bridge morphology0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0000422HP:0000422Abnormal nasal bridge morphology0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0000422HP:0000422Abnormal nasal bridge morphology0INPPL1 CL E G H36366080ORPHA:2746Opsismodysplasia18
HP:0000422HP:0000422Abnormal nasal bridge morphology0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0000422HP:0000422Abnormal nasal bridge morphology0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0000422HP:0000422Abnormal nasal bridge morphology0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000422HP:0000422Abnormal nasal bridge morphology0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000422HP:0000422Abnormal nasal bridge morphology0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000422HP:0000422Abnormal nasal bridge morphology0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesis130
HP:0000422HP:0000422Abnormal nasal bridge morphology0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000422HP:0000422Abnormal nasal bridge morphology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000422HP:0000422Abnormal nasal bridge morphology0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000422HP:0000422Abnormal nasal bridge morphology0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant141
HP:0000422HP:0000422Abnormal nasal bridge morphology0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000422HP:0000422Abnormal nasal bridge morphology0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0000422HP:0000422Abnormal nasal bridge morphology0KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000422HP:0000422Abnormal nasal bridge morphology0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000422HP:0000422Abnormal nasal bridge morphology0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly24
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV4
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 129
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali type167
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000422HP:0000422Abnormal nasal bridge morphology0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0000422HP:0000422Abnormal nasal bridge morphology0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0000422HP:0000422Abnormal nasal bridge morphology0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 342
HP:0000422HP:0000422Abnormal nasal bridge morphology0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0000422HP:0000422Abnormal nasal bridge morphology0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0000422HP:0000422Abnormal nasal bridge morphology0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0000422HP:0000422Abnormal nasal bridge morphology0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000422HP:0000422Abnormal nasal bridge morphology0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000422HP:0000422Abnormal nasal bridge morphology0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0000422HP:0000422Abnormal nasal bridge morphology0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000422HP:0000422Abnormal nasal bridge morphology0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000422HP:0000422Abnormal nasal bridge morphology0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0000422HP:0000422Abnormal nasal bridge morphology0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type1
HP:0000422HP:0000422Abnormal nasal bridge morphology0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0000422HP:0000422Abnormal nasal bridge morphology0LAMA5 CL E G H39116485OMIM:6200765
HP:0000422HP:0000422Abnormal nasal bridge morphology0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome16
HP:0000422HP:0000422Abnormal nasal bridge morphology0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000422HP:0000422Abnormal nasal bridge morphology0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000422HP:0000422Abnormal nasal bridge morphology0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0000422HP:0000422Abnormal nasal bridge morphology0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0000422HP:0000422Abnormal nasal bridge morphology0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosis13
HP:0000422HP:0000422Abnormal nasal bridge morphology0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0000422HP:0000422Abnormal nasal bridge morphology0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0000422HP:0000422Abnormal nasal bridge morphology0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0000422HP:0000422Abnormal nasal bridge morphology0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0000422HP:0000422Abnormal nasal bridge morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0000422HP:0000422Abnormal nasal bridge morphology0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0000422HP:0000422Abnormal nasal bridge morphology0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000422HP:0000422Abnormal nasal bridge morphology0LONP1 CL E G H93619479ORPHA:1458CODAS syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0000422HP:0000422Abnormal nasal bridge morphology0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndrome289
HP:0000422HP:0000422Abnormal nasal bridge morphology0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000422HP:0000422Abnormal nasal bridge morphology0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type191
HP:0000422HP:0000422Abnormal nasal bridge morphology0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000422HP:0000422Abnormal nasal bridge morphology0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0000422HP:0000422Abnormal nasal bridge morphology0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC92
HP:0000422HP:0000422Abnormal nasal bridge morphology0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0000422HP:0000422Abnormal nasal bridge morphology0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAFB CL E G H99356408ORPHA:2774Multicentric carpo-tarsal osteolysis with or without nephropathy63
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000422HP:0000422Abnormal nasal bridge morphology0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000422HP:0000422Abnormal nasal bridge morphology0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 2525
HP:0000422HP:0000422Abnormal nasal bridge morphology0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000422HP:0000422Abnormal nasal bridge morphology0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0000422HP:0000422Abnormal nasal bridge morphology0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndrome228
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000422HP:0000422Abnormal nasal bridge morphology0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000422HP:0000422Abnormal nasal bridge morphology0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000422HP:0000422Abnormal nasal bridge morphology0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000422HP:0000422Abnormal nasal bridge morphology0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000422HP:0000422Abnormal nasal bridge morphology0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000422HP:0000422Abnormal nasal bridge morphology0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000422HP:0000422Abnormal nasal bridge morphology0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0000422HP:0000422Abnormal nasal bridge morphology0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosis45
HP:0000422HP:0000422Abnormal nasal bridge morphology0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 4413
HP:0000422HP:0000422Abnormal nasal bridge morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0000422HP:0000422Abnormal nasal bridge morphology0MGP CL E G H42567060OMIM:245150Keutel syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000422HP:0000422Abnormal nasal bridge morphology0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0000422HP:0000422Abnormal nasal bridge morphology0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000422HP:0000422Abnormal nasal bridge morphology0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 73
HP:0000422HP:0000422Abnormal nasal bridge morphology0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0000422HP:0000422Abnormal nasal bridge morphology0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndrome91
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000422HP:0000422Abnormal nasal bridge morphology0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0000422HP:0000422Abnormal nasal bridge morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0000422HP:0000422Abnormal nasal bridge morphology0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000422HP:0000422Abnormal nasal bridge morphology0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000422HP:0000422Abnormal nasal bridge morphology0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0000422HP:0000422Abnormal nasal bridge morphology0MTHFR CL E G H45247436ORPHA:563612Isolated exencephaly183
HP:0000422HP:0000422Abnormal nasal bridge morphology0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0000422HP:0000422Abnormal nasal bridge morphology0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0000422HP:0000422Abnormal nasal bridge morphology0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000422HP:0000422Abnormal nasal bridge morphology0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequence72
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A166
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequence
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0000422HP:0000422Abnormal nasal bridge morphology0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000422HP:0000422Abnormal nasal bridge morphology0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 247
HP:0000422HP:0000422Abnormal nasal bridge morphology0NAGA CL E G H46687631OMIM:609242Kanzaki disease47
HP:0000422HP:0000422Abnormal nasal bridge morphology0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0000422HP:0000422Abnormal nasal bridge morphology0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0000422HP:0000422Abnormal nasal bridge morphology0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0000422HP:0000422Abnormal nasal bridge morphology0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0000422HP:0000422Abnormal nasal bridge morphology0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0000422HP:0000422Abnormal nasal bridge morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 496
HP:0000422HP:0000422Abnormal nasal bridge morphology0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0000422HP:0000422Abnormal nasal bridge morphology0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0000422HP:0000422Abnormal nasal bridge morphology0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0000422HP:0000422Abnormal nasal bridge morphology0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0000422HP:0000422Abnormal nasal bridge morphology0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000422HP:0000422Abnormal nasal bridge morphology0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0000422HP:0000422Abnormal nasal bridge morphology0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0000422HP:0000422Abnormal nasal bridge morphology0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000422HP:0000422Abnormal nasal bridge morphology0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0000422HP:0000422Abnormal nasal bridge morphology0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development1
HP:0000422HP:0000422Abnormal nasal bridge morphology0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0NHS CL E G H48107820ORPHA:627Nance-Horan syndrome88
HP:0000422HP:0000422Abnormal nasal bridge morphology0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0000422HP:0000422Abnormal nasal bridge morphology0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000422HP:0000422Abnormal nasal bridge morphology0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000422HP:0000422Abnormal nasal bridge morphology0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000422HP:0000422Abnormal nasal bridge morphology0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0000422HP:0000422Abnormal nasal bridge morphology0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000422HP:0000422Abnormal nasal bridge morphology0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000422HP:0000422Abnormal nasal bridge morphology0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000422HP:0000422Abnormal nasal bridge morphology0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000422HP:0000422Abnormal nasal bridge morphology0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome144
HP:0000422HP:0000422Abnormal nasal bridge morphology0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0000422HP:0000422Abnormal nasal bridge morphology0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0000422HP:0000422Abnormal nasal bridge morphology0NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux type53
HP:0000422HP:0000422Abnormal nasal bridge morphology0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0000422HP:0000422Abnormal nasal bridge morphology0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000422HP:0000422Abnormal nasal bridge morphology0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0000422HP:0000422Abnormal nasal bridge morphology0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000422HP:0000422Abnormal nasal bridge morphology0NRCAM CL E G H48977994OMIM:6198332
HP:0000422HP:0000422Abnormal nasal bridge morphology0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSDHL CL E G H5081413398OMIM:300831Ck syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSRP1 CL E G H8408125305OMIM:620001
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0000422HP:0000422Abnormal nasal bridge morphology0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0000422HP:0000422Abnormal nasal bridge morphology0NUDT2 CL E G H3188049OMIM:619844
HP:0000422HP:0000422Abnormal nasal bridge morphology0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000422HP:0000422Abnormal nasal bridge morphology0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequence
HP:0000422HP:0000422Abnormal nasal bridge morphology0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 22
HP:0000422HP:0000422Abnormal nasal bridge morphology0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000422HP:0000422Abnormal nasal bridge morphology0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10201
HP:0000422HP:0000422Abnormal nasal bridge morphology0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000422HP:0000422Abnormal nasal bridge morphology0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0000422HP:0000422Abnormal nasal bridge morphology0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0000422HP:0000422Abnormal nasal bridge morphology0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0000422HP:0000422Abnormal nasal bridge morphology0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0000422HP:0000422Abnormal nasal bridge morphology0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0000422HP:0000422Abnormal nasal bridge morphology0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000422HP:0000422Abnormal nasal bridge morphology0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000422HP:0000422Abnormal nasal bridge morphology0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAICS CL E G H106068587OMIM:619859
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAK2 CL E G H50628591ORPHA:1571Knobloch syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0000422HP:0000422Abnormal nasal bridge morphology0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndrome59
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 359
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0000422HP:0000422Abnormal nasal bridge morphology0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0000422HP:0000422Abnormal nasal bridge morphology0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0000422HP:0000422Abnormal nasal bridge morphology0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0000422HP:0000422Abnormal nasal bridge morphology0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000422HP:0000422Abnormal nasal bridge morphology0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 36
HP:0000422HP:0000422Abnormal nasal bridge morphology0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0000422HP:0000422Abnormal nasal bridge morphology0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE4D CL E G H51448783ORPHA:950Acrodysostosis113
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndrome113
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome28
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type28
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0000422HP:0000422Abnormal nasal bridge morphology0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophy169
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B169
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophy75
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger)75
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophy4
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophy65
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger)65
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophy66
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger)66
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophy46
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX14 CL E G H51958856OMIM:614887Peroxisome biogenesis disorder 13A (Zellweger).46
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophy59
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophy62
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophy82
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophy106
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophy47
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophy99
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B99
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophy98
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger)98
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0000422HP:0000422Abnormal nasal bridge morphology0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0000422HP:0000422Abnormal nasal bridge morphology0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000422HP:0000422Abnormal nasal bridge morphology0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 38
HP:0000422HP:0000422Abnormal nasal bridge morphology0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 420
HP:0000422HP:0000422Abnormal nasal bridge morphology0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0000422HP:0000422Abnormal nasal bridge morphology0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 116
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome162
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0000422HP:0000422Abnormal nasal bridge morphology0PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0000422HP:0000422Abnormal nasal bridge morphology0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0000422HP:0000422Abnormal nasal bridge morphology0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000422HP:0000422Abnormal nasal bridge morphology0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000422HP:0000422Abnormal nasal bridge morphology0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000422HP:0000422Abnormal nasal bridge morphology0PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000422HP:0000422Abnormal nasal bridge morphology0PLXNA1 CL E G H53619099OMIM:619955
HP:0000422HP:0000422Abnormal nasal bridge morphology0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0000422HP:0000422Abnormal nasal bridge morphology0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0000422HP:0000422Abnormal nasal bridge morphology0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0000422HP:0000422Abnormal nasal bridge morphology0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0000422HP:0000422Abnormal nasal bridge morphology0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLE CL E G H54269177ORPHA:85173IMAGe syndrome1129
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLR1A CL E G H2588517264ORPHA:1200Burn-McKeown syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000422HP:0000422Abnormal nasal bridge morphology0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000422HP:0000422Abnormal nasal bridge morphology0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0000422HP:0000422Abnormal nasal bridge morphology0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0000422HP:0000422Abnormal nasal bridge morphology0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis76
HP:0000422HP:0000422Abnormal nasal bridge morphology0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis76
HP:0000422HP:0000422Abnormal nasal bridge morphology0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000422HP:0000422Abnormal nasal bridge morphology0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0000422HP:0000422Abnormal nasal bridge morphology0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0000422HP:0000422Abnormal nasal bridge morphology0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0000422HP:0000422Abnormal nasal bridge morphology0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0000422HP:0000422Abnormal nasal bridge morphology0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000422HP:0000422Abnormal nasal bridge morphology0PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndrome28
HP:0000422HP:0000422Abnormal nasal bridge morphology0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0000422HP:0000422Abnormal nasal bridge morphology0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRIM1 CL E G H55579369OMIM:620005
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKAR1A CL E G H55739388ORPHA:950Acrodysostosis134
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia7
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures6
HP:0000422HP:0000422Abnormal nasal bridge morphology0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadism9
HP:0000422HP:0000422Abnormal nasal bridge morphology0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0000422HP:0000422Abnormal nasal bridge morphology0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0000422HP:0000422Abnormal nasal bridge morphology0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0000422HP:0000422Abnormal nasal bridge morphology0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000422HP:0000422Abnormal nasal bridge morphology0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0000422HP:0000422Abnormal nasal bridge morphology0PSMC1 CL E G H57009547OMIM:6200711
HP:0000422HP:0000422Abnormal nasal bridge morphology0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTCH1 CL E G H57279585ORPHA:377Gorlin syndrome665
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTCH2 CL E G H86439586ORPHA:377Gorlin syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome948
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0000422HP:0000422Abnormal nasal bridge morphology0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0000422HP:0000422Abnormal nasal bridge morphology0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 471
HP:0000422HP:0000422Abnormal nasal bridge morphology0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0000422HP:0000422Abnormal nasal bridge morphology0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation53
HP:0000422HP:0000422Abnormal nasal bridge morphology0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion53
HP:0000422HP:0000422Abnormal nasal bridge morphology0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000422HP:0000422Abnormal nasal bridge morphology0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000422HP:0000422Abnormal nasal bridge morphology0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000422HP:0000422Abnormal nasal bridge morphology0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequence73
HP:0000422HP:0000422Abnormal nasal bridge morphology0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000422HP:0000422Abnormal nasal bridge morphology0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 129
HP:0000422HP:0000422Abnormal nasal bridge morphology0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0000422HP:0000422Abnormal nasal bridge morphology0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0000422HP:0000422Abnormal nasal bridge morphology0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000422HP:0000422Abnormal nasal bridge morphology0RBM10 CL E G H82419896OMIM:311900Tarp syndrome16
HP:0000422HP:0000422Abnormal nasal bridge morphology0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0000422HP:0000422Abnormal nasal bridge morphology0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0000422HP:0000422Abnormal nasal bridge morphology0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0000422HP:0000422Abnormal nasal bridge morphology0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndrome445
HP:0000422HP:0000422Abnormal nasal bridge morphology0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0000422HP:0000422Abnormal nasal bridge morphology0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000422HP:0000422Abnormal nasal bridge morphology0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0000422HP:0000422Abnormal nasal bridge morphology0RELN CL E G H56499957OMIM:257320Lissencephaly 2334
HP:0000422HP:0000422Abnormal nasal bridge morphology0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts type334
HP:0000422HP:0000422Abnormal nasal bridge morphology0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0000422HP:0000422Abnormal nasal bridge morphology0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0000422HP:0000422Abnormal nasal bridge morphology0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0000422HP:0000422Abnormal nasal bridge morphology0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000422HP:0000422Abnormal nasal bridge morphology0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0000422HP:0000422Abnormal nasal bridge morphology0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000422HP:0000422Abnormal nasal bridge morphology0RIPK4 CL E G H54101496ORPHA:1401CHAND syndrome69
HP:0000422HP:0000422Abnormal nasal bridge morphology0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosis3
HP:0000422HP:0000422Abnormal nasal bridge morphology0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0000422HP:0000422Abnormal nasal bridge morphology0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0000422HP:0000422Abnormal nasal bridge morphology0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000422HP:0000422Abnormal nasal bridge morphology0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0000422HP:0000422Abnormal nasal bridge morphology0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000422HP:0000422Abnormal nasal bridge morphology0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0000422HP:0000422Abnormal nasal bridge morphology0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0000422HP:0000422Abnormal nasal bridge morphology0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000422HP:0000422Abnormal nasal bridge morphology0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000422HP:0000422Abnormal nasal bridge morphology0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0000422HP:0000422Abnormal nasal bridge morphology0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0000422HP:0000422Abnormal nasal bridge morphology0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0000422HP:0000422Abnormal nasal bridge morphology0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0000422HP:0000422Abnormal nasal bridge morphology0RPS7 CL E G H620110440OMIM:612563Diamond-Blackfan anemia 820
HP:0000422HP:0000422Abnormal nasal bridge morphology0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2
HP:0000422HP:0000422Abnormal nasal bridge morphology0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0000422HP:0000422Abnormal nasal bridge morphology0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000422HP:0000422Abnormal nasal bridge morphology0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000422HP:0000422Abnormal nasal bridge morphology0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000422HP:0000422Abnormal nasal bridge morphology0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0000422HP:0000422Abnormal nasal bridge morphology0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000422HP:0000422Abnormal nasal bridge morphology0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0000422HP:0000422Abnormal nasal bridge morphology0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathy1200
HP:0000422HP:0000422Abnormal nasal bridge morphology0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0000422HP:0000422Abnormal nasal bridge morphology0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0000422HP:0000422Abnormal nasal bridge morphology0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000422HP:0000422Abnormal nasal bridge morphology0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0000422HP:0000422Abnormal nasal bridge morphology0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCNM1 CL E G H7900523136OMIM:620107
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000422HP:0000422Abnormal nasal bridge morphology0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000422HP:0000422Abnormal nasal bridge morphology0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasia2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEMA5A CL E G H903710736ORPHA:281Monosomy 5p6
HP:0000422HP:0000422Abnormal nasal bridge morphology0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic
HP:0000422HP:0000422Abnormal nasal bridge morphology0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000422HP:0000422Abnormal nasal bridge morphology0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0000422HP:0000422Abnormal nasal bridge morphology0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0000422HP:0000422Abnormal nasal bridge morphology0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000422HP:0000422Abnormal nasal bridge morphology0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0000422HP:0000422Abnormal nasal bridge morphology0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0000422HP:0000422Abnormal nasal bridge morphology0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000422HP:0000422Abnormal nasal bridge morphology0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0000422HP:0000422Abnormal nasal bridge morphology0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0000422HP:0000422Abnormal nasal bridge morphology0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000422HP:0000422Abnormal nasal bridge morphology0SHH CL E G H646910848OMIM:142945Holoprosencephaly 367
HP:0000422HP:0000422Abnormal nasal bridge morphology0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0000422HP:0000422Abnormal nasal bridge morphology0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0000422HP:0000422Abnormal nasal bridge morphology0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos type42
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIX2 CL E G H1073610888ORPHA:488437SIX2-related frontonasal dysplasia2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0000422HP:0000422Abnormal nasal bridge morphology0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0000422HP:0000422Abnormal nasal bridge morphology0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0000422HP:0000422Abnormal nasal bridge morphology0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequence2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndrome55
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesis59
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0000422HP:0000422Abnormal nasal bridge morphology0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4617
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMG9 CL E G H5600625763OMIM:6199952
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000422HP:0000422Abnormal nasal bridge morphology0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000422HP:0000422Abnormal nasal bridge morphology0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0000422HP:0000422Abnormal nasal bridge morphology0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasia26
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndrome61
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome11
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0000422HP:0000422Abnormal nasal bridge morphology0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000422HP:0000422Abnormal nasal bridge morphology0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII34
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome3
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadism5
HP:0000422HP:0000422Abnormal nasal bridge morphology0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000422HP:0000422Abnormal nasal bridge morphology0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000422HP:0000422Abnormal nasal bridge morphology0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000422HP:0000422Abnormal nasal bridge morphology0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0000422HP:0000422Abnormal nasal bridge morphology0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0000422HP:0000422Abnormal nasal bridge morphology0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome80
HP:0000422HP:0000422Abnormal nasal bridge morphology0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 479
HP:0000422HP:0000422Abnormal nasal bridge morphology0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0000422HP:0000422Abnormal nasal bridge morphology0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0000422HP:0000422Abnormal nasal bridge morphology0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0000422HP:0000422Abnormal nasal bridge morphology0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000422HP:0000422Abnormal nasal bridge morphology0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000422HP:0000422Abnormal nasal bridge morphology0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0000422HP:0000422Abnormal nasal bridge morphology0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUFU CL E G H5168416466ORPHA:377Gorlin syndrome124
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32124
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0000422HP:0000422Abnormal nasal bridge morphology0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000422HP:0000422Abnormal nasal bridge morphology0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000422HP:0000422Abnormal nasal bridge morphology0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000422HP:0000422Abnormal nasal bridge morphology0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0000422HP:0000422Abnormal nasal bridge morphology0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0000422HP:0000422Abnormal nasal bridge morphology0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0000422HP:0000422Abnormal nasal bridge morphology0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0000422HP:0000422Abnormal nasal bridge morphology0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome5
HP:0000422HP:0000422Abnormal nasal bridge morphology0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0000422HP:0000422Abnormal nasal bridge morphology0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000422HP:0000422Abnormal nasal bridge morphology0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000422HP:0000422Abnormal nasal bridge morphology0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndrome52
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0000422HP:0000422Abnormal nasal bridge morphology0TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosis19
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0000422HP:0000422Abnormal nasal bridge morphology0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0000422HP:0000422Abnormal nasal bridge morphology0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0000422HP:0000422Abnormal nasal bridge morphology0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000422HP:0000422Abnormal nasal bridge morphology0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000422HP:0000422Abnormal nasal bridge morphology0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0000422HP:0000422Abnormal nasal bridge morphology0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000422HP:0000422Abnormal nasal bridge morphology0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesis155
HP:0000422HP:0000422Abnormal nasal bridge morphology0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000422HP:0000422Abnormal nasal bridge morphology0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 432
HP:0000422HP:0000422Abnormal nasal bridge morphology0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0000422HP:0000422Abnormal nasal bridge morphology0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defect39
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM147 CL E G H1043030414OMIM:620075
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defect45
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defect33
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 1482
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defect82
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0000422HP:0000422Abnormal nasal bridge morphology0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0000422HP:0000422Abnormal nasal bridge morphology0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B37
HP:0000422HP:0000422Abnormal nasal bridge morphology0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0000422HP:0000422Abnormal nasal bridge morphology0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0000422HP:0000422Abnormal nasal bridge morphology0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 76
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000422HP:0000422Abnormal nasal bridge morphology0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0000422HP:0000422Abnormal nasal bridge morphology0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0000422HP:0000422Abnormal nasal bridge morphology0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000422HP:0000422Abnormal nasal bridge morphology0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0000422HP:0000422Abnormal nasal bridge morphology0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0000422HP:0000422Abnormal nasal bridge morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000422HP:0000422Abnormal nasal bridge morphology0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0000422HP:0000422Abnormal nasal bridge morphology0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0000422HP:0000422Abnormal nasal bridge morphology0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesis92
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIM37 CL E G H45917523ORPHA:2576Mulibrey nanism78
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIP11 CL E G H932112305ORPHA:166272Odontochondrodysplasia133
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 492
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214
HP:0000422HP:0000422Abnormal nasal bridge morphology0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0000422HP:0000422Abnormal nasal bridge morphology0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0000422HP:0000422Abnormal nasal bridge morphology0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0000422HP:0000422Abnormal nasal bridge morphology0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0000422HP:0000422Abnormal nasal bridge morphology0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000422HP:0000422Abnormal nasal bridge morphology0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0000422HP:0000422Abnormal nasal bridge morphology0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0000422HP:0000422Abnormal nasal bridge morphology0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0000422HP:0000422Abnormal nasal bridge morphology0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequence106
HP:0000422HP:0000422Abnormal nasal bridge morphology0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0000422HP:0000422Abnormal nasal bridge morphology0TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome14
HP:0000422HP:0000422Abnormal nasal bridge morphology0TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome61
HP:0000422HP:0000422Abnormal nasal bridge morphology0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0000422HP:0000422Abnormal nasal bridge morphology0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0000422HP:0000422Abnormal nasal bridge morphology0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome18
HP:0000422HP:0000422Abnormal nasal bridge morphology0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0000422HP:0000422Abnormal nasal bridge morphology0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0000422HP:0000422Abnormal nasal bridge morphology0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0000422HP:0000422Abnormal nasal bridge morphology0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0TXNL4A CL E G H1090730551ORPHA:1200Burn-McKeown syndrome19
HP:0000422HP:0000422Abnormal nasal bridge morphology0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000422HP:0000422Abnormal nasal bridge morphology0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0000422HP:0000422Abnormal nasal bridge morphology0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000422HP:0000422Abnormal nasal bridge morphology0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000422HP:0000422Abnormal nasal bridge morphology0UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduria135
HP:0000422HP:0000422Abnormal nasal bridge morphology0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000422HP:0000422Abnormal nasal bridge morphology0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0000422HP:0000422Abnormal nasal bridge morphology0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndrome33
HP:0000422HP:0000422Abnormal nasal bridge morphology0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000422HP:0000422Abnormal nasal bridge morphology0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0000422HP:0000422Abnormal nasal bridge morphology0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000422HP:0000422Abnormal nasal bridge morphology0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0000422HP:0000422Abnormal nasal bridge morphology0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0000422HP:0000422Abnormal nasal bridge morphology0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0000422HP:0000422Abnormal nasal bridge morphology0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephaly2
HP:0000422HP:0000422Abnormal nasal bridge morphology0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000422HP:0000422Abnormal nasal bridge morphology0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0000422HP:0000422Abnormal nasal bridge morphology0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000422HP:0000422Abnormal nasal bridge morphology0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000422HP:0000422Abnormal nasal bridge morphology0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000422HP:0000422Abnormal nasal bridge morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000422HP:0000422Abnormal nasal bridge morphology0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000422HP:0000422Abnormal nasal bridge morphology0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0000422HP:0000422Abnormal nasal bridge morphology0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000422HP:0000422Abnormal nasal bridge morphology0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0000422HP:0000422Abnormal nasal bridge morphology0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0000422HP:0000422Abnormal nasal bridge morphology0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadism10
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome8
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000422HP:0000422Abnormal nasal bridge morphology0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000422HP:0000422Abnormal nasal bridge morphology0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000422HP:0000422Abnormal nasal bridge morphology0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000422HP:0000422Abnormal nasal bridge morphology0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000422HP:0000422Abnormal nasal bridge morphology0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0000422HP:0000422Abnormal nasal bridge morphology0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0000422HP:0000422Abnormal nasal bridge morphology0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000422HP:0000422Abnormal nasal bridge morphology0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0000422HP:0000422Abnormal nasal bridge morphology0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1q16
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZBTB24 CL E G H984121143ORPHA:2268ICF syndrome9
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome29
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndrome10
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive60
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defect49
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis5
HP:0000422HP:0000422Abnormal nasal bridge morphology0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features5
HP:0000422HP:0000431Wide nasal bridge1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000422HP:0000431Wide nasal bridge1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000422HP:0005280Depressed nasal bridge1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000422HP:0000431Wide nasal bridge1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0000422HP:0005280Depressed nasal bridge1ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansHP:0040284 - Very rare34
HP:0000422HP:0005285Absent nasal bridge1ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0000422HP:0005285Absent nasal bridge1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0000422HP:0005280Depressed nasal bridge1ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0000422HP:0005280Depressed nasal bridge1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000422HP:0000431Wide nasal bridge1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000422HP:0005280Depressed nasal bridge1ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent19
HP:0000422HP:0000431Wide nasal bridge1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000422HP:0000431Wide nasal bridge1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000422HP:0000431Wide nasal bridge1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000422HP:0000426Prominent nasal bridge1ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000422HP:0000431Wide nasal bridge1ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0000422HP:0005280Depressed nasal bridge1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000422HP:0000431Wide nasal bridge1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000422HP:0005280Depressed nasal bridge1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0000422HP:0005280Depressed nasal bridge1ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040282 - Frequent165
HP:0000422HP:0000431Wide nasal bridge1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0000422HP:0000431Wide nasal bridge1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040282 - Frequent72
HP:0000422HP:0005280Depressed nasal bridge1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0000422HP:0005280Depressed nasal bridge1ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0000422HP:0005280Depressed nasal bridge1ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0000422HP:0005280Depressed nasal bridge1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000422HP:0000431Wide nasal bridge1ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000422HP:0000426Prominent nasal bridge1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000422HP:0000426Prominent nasal bridge1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe.59
HP:0000422HP:0005280Depressed nasal bridge1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0000422HP:0000431Wide nasal bridge1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0000422HP:0000431Wide nasal bridge1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000422HP:0005280Depressed nasal bridge1AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0000422HP:0000431Wide nasal bridge1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000422HP:0005280Depressed nasal bridge1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000422HP:0005280Depressed nasal bridge1AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0000422HP:0000426Prominent nasal bridge1AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000422HP:0000431Wide nasal bridge1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0000422HP:0000426Prominent nasal bridge1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000422HP:0000431Wide nasal bridge1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000422HP:0000431Wide nasal bridge1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000422HP:0005280Depressed nasal bridge1AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040283 - Occasional60
HP:0000422HP:0005280Depressed nasal bridge1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0000422HP:0005280Depressed nasal bridge1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000422HP:0005280Depressed nasal bridge1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000422HP:0005280Depressed nasal bridge1AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent19
HP:0000422HP:0005280Depressed nasal bridge1ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0000422HP:0000426Prominent nasal bridge1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000422HP:0000431Wide nasal bridge1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0000422HP:0000431Wide nasal bridge1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000422HP:0005280Depressed nasal bridge1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000422HP:0000431Wide nasal bridge1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000422HP:0005280Depressed nasal bridge1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000422HP:0005280Depressed nasal bridge1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0000422HP:0000431Wide nasal bridge1ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0000422HP:0000431Wide nasal bridge1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000422HP:0000431Wide nasal bridge1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0000422HP:0000431Wide nasal bridge1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000422HP:0005280Depressed nasal bridge1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000422HP:0005280Depressed nasal bridge1ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0000422HP:0005280Depressed nasal bridge1ALX4 CL E G H60529450OMIM:609597Parietal foramina 2HP:0040283 - Occasional132
HP:0000422HP:0000426Prominent nasal bridge1ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent132
HP:0000422HP:0000431Wide nasal bridge1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000422HP:0000431Wide nasal bridge1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040282 - Frequent34
HP:0000422HP:0005280Depressed nasal bridge1AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent2
HP:0000422HP:0005280Depressed nasal bridge1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000422HP:0005280Depressed nasal bridge1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0000422HP:0000431Wide nasal bridge1ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent164
HP:0000422HP:0005280Depressed nasal bridge1ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent164
HP:0000422HP:0000426Prominent nasal bridge1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000422HP:0000426Prominent nasal bridge1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000422HP:0005280Depressed nasal bridge1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000422HP:0005280Depressed nasal bridge1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000422HP:0000431Wide nasal bridge1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000422HP:0000431Wide nasal bridge1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000422HP:0000431Wide nasal bridge1AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessiveHP:0040283 - Occasional49
HP:0000422HP:0000431Wide nasal bridge1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000422HP:0000431Wide nasal bridge1AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000422HP:0000431Wide nasal bridge1APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0000422HP:0000431Wide nasal bridge1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000422HP:0005280Depressed nasal bridge1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000422HP:0005280Depressed nasal bridge1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0000422HP:0000431Wide nasal bridge1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0000422HP:0005280Depressed nasal bridge1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000422HP:0005280Depressed nasal bridge1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000422HP:0005280Depressed nasal bridge1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000422HP:0005280Depressed nasal bridge1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0000422HP:0000426Prominent nasal bridge1ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000422HP:0000431Wide nasal bridge1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000422HP:0000426Prominent nasal bridge1ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000422HP:0005280Depressed nasal bridge1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000422HP:0000431Wide nasal bridge1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000422HP:0000426Prominent nasal bridge1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional29
HP:0000422HP:0000431Wide nasal bridge1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000422HP:0000426Prominent nasal bridge1ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000422HP:0005280Depressed nasal bridge1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0000422HP:0000431Wide nasal bridge1ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000422HP:0005280Depressed nasal bridge1ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0000422HP:0000426Prominent nasal bridge1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0000422HP:0000431Wide nasal bridge1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0000422HP:0000426Prominent nasal bridge1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0000422HP:0000431Wide nasal bridge1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0000422HP:0000426Prominent nasal bridge1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000422HP:0005280Depressed nasal bridge1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000422HP:0000426Prominent nasal bridge1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000422HP:0005280Depressed nasal bridge1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0000422HP:0000431Wide nasal bridge1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000422HP:0005280Depressed nasal bridge1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0000422HP:0000431Wide nasal bridge1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0000422HP:0000426Prominent nasal bridge1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000422HP:0000426Prominent nasal bridge1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000422HP:0000431Wide nasal bridge1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000422HP:0005280Depressed nasal bridge1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000422HP:0000431Wide nasal bridge1ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000422HP:0000426Prominent nasal bridge1ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0000422HP:0000431Wide nasal bridge1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000422HP:0000431Wide nasal bridge1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000422HP:0000431Wide nasal bridge1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0000422HP:0000426Prominent nasal bridge1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0000422HP:0005280Depressed nasal bridge1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000422HP:0000431Wide nasal bridge1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000422HP:0005280Depressed nasal bridge1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000422HP:0000431Wide nasal bridge1AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000422HP:0005280Depressed nasal bridge1AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0000422HP:0000431Wide nasal bridge1AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0000422HP:0005280Depressed nasal bridge1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000422HP:0005280Depressed nasal bridge1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000422HP:0005280Depressed nasal bridge1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000422HP:0000431Wide nasal bridge1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000422HP:0000431Wide nasal bridge1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0000422HP:0000431Wide nasal bridge1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0000422HP:0000426Prominent nasal bridge1B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000422HP:0000426Prominent nasal bridge1B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000422HP:0000431Wide nasal bridge1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000422HP:0000426Prominent nasal bridge1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional114
HP:0000422HP:0000431Wide nasal bridge1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000422HP:0000426Prominent nasal bridge1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional118
HP:0000422HP:0000426Prominent nasal bridge1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional71
HP:0000422HP:0000426Prominent nasal bridge1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional97
HP:0000422HP:0000431Wide nasal bridge1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000422HP:0000426Prominent nasal bridge1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional87
HP:0000422HP:0000426Prominent nasal bridge1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional25
HP:0000422HP:0000426Prominent nasal bridge1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional66
HP:0000422HP:0005280Depressed nasal bridge1BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0000422HP:0000426Prominent nasal bridge1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional119
HP:0000422HP:0000431Wide nasal bridge1BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000422HP:0000431Wide nasal bridge1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000422HP:0000426Prominent nasal bridge1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040282 - Frequent101
HP:0000422HP:0000426Prominent nasal bridge1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000422HP:0000431Wide nasal bridge1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000422HP:0000426Prominent nasal bridge1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000422HP:0005280Depressed nasal bridge1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000422HP:0005280Depressed nasal bridge1BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000422HP:0000431Wide nasal bridge1BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0000422HP:0005280Depressed nasal bridge1BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0000422HP:0005280Depressed nasal bridge1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0000422HP:0005280Depressed nasal bridge1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0000422HP:0000446Narrow nasal bridge1BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent90
HP:0000422HP:0000431Wide nasal bridge1BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type.
HP:0000422HP:0000431Wide nasal bridge1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000422HP:0033142Long nasal bridge1BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000422HP:0005280Depressed nasal bridge1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000422HP:0005280Depressed nasal bridge1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000422HP:0005280Depressed nasal bridge1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000422HP:0005280Depressed nasal bridge1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000422HP:0000431Wide nasal bridge1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000422HP:0000426Prominent nasal bridge1BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000422HP:0005280Depressed nasal bridge1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0000422HP:0000431Wide nasal bridge1BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000422HP:0005280Depressed nasal bridge1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000422HP:0000431Wide nasal bridge1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000422HP:0005280Depressed nasal bridge1CACNA1C CL E G H7751390OMIM:620029572
HP:0000422HP:0005280Depressed nasal bridge1CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0000422HP:0005280Depressed nasal bridge1CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0000422HP:0005280Depressed nasal bridge1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0000422HP:0005280Depressed nasal bridge1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0000422HP:0000431Wide nasal bridge1CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0000422HP:0000426Prominent nasal bridge1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0000422HP:0000431Wide nasal bridge1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000422HP:0000431Wide nasal bridge1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000422HP:0005280Depressed nasal bridge1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000422HP:0000431Wide nasal bridge1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0000422HP:0005280Depressed nasal bridge1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000422HP:0000426Prominent nasal bridge1CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000422HP:0000426Prominent nasal bridge1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000422HP:0000426Prominent nasal bridge1CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional247
HP:0000422HP:0005280Depressed nasal bridge1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000422HP:0000431Wide nasal bridge1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000422HP:0005280Depressed nasal bridge1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0000422HP:0000431Wide nasal bridge1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0000422HP:0000431Wide nasal bridge1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040281 - Very frequent33
HP:0000422HP:0005280Depressed nasal bridge1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040282 - Frequent33
HP:0000422HP:0005280Depressed nasal bridge1CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent11
HP:0000422HP:0000431Wide nasal bridge1CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0000422HP:0000431Wide nasal bridge1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040282 - Frequent7
HP:0000422HP:0000431Wide nasal bridge1CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000422HP:0005280Depressed nasal bridge1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000422HP:0000431Wide nasal bridge1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000422HP:0000431Wide nasal bridge1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000422HP:0005280Depressed nasal bridge1CDC42BPB CL E G H95781738OMIM:619841
HP:0000422HP:0000426Prominent nasal bridge1CDC42BPB CL E G H95781738OMIM:619841
HP:0000422HP:0005280Depressed nasal bridge1CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040282 - Frequent4
HP:0000422HP:0005280Depressed nasal bridge1CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 3.4
HP:0000422HP:0005280Depressed nasal bridge1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000422HP:0000431Wide nasal bridge1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000422HP:0005280Depressed nasal bridge1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000422HP:0005280Depressed nasal bridge1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000422HP:0000431Wide nasal bridge1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000422HP:0000431Wide nasal bridge1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000422HP:0005280Depressed nasal bridge1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000422HP:0000431Wide nasal bridge1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000422HP:0000426Prominent nasal bridge1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000422HP:0005280Depressed nasal bridge1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0000422HP:0005280Depressed nasal bridge1CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0000422HP:0005280Depressed nasal bridge1CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0000422HP:0000446Narrow nasal bridge1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent200
HP:0000422HP:0000431Wide nasal bridge1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000422HP:0000426Prominent nasal bridge1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000422HP:0000426Prominent nasal bridge1CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000422HP:0000426Prominent nasal bridge1CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000422HP:0000426Prominent nasal bridge1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000422HP:0000426Prominent nasal bridge1CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0000422HP:0000426Prominent nasal bridge1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000422HP:0000426Prominent nasal bridge1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional342
HP:0000422HP:0000426Prominent nasal bridge1CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional342
HP:0000422HP:0000426Prominent nasal bridge1CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000422HP:0000426Prominent nasal bridge1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000422HP:0005280Depressed nasal bridge1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000422HP:0000431Wide nasal bridge1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000422HP:0000426Prominent nasal bridge1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000422HP:0000431Wide nasal bridge1CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000422HP:0000426Prominent nasal bridge1CHD5 CL E G H2603816816OMIM:619873
HP:0000422HP:0005280Depressed nasal bridge1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000422HP:0005280Depressed nasal bridge1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional515
HP:0000422HP:0000431Wide nasal bridge1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000422HP:0000431Wide nasal bridge1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000422HP:0005280Depressed nasal bridge1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000422HP:0000431Wide nasal bridge1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000422HP:0000431Wide nasal bridge1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0000422HP:0000426Prominent nasal bridge1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0000422HP:0000431Wide nasal bridge1CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000422HP:0005280Depressed nasal bridge1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0000422HP:0000426Prominent nasal bridge1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0000422HP:0000431Wide nasal bridge1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0000422HP:0000431Wide nasal bridge1CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000422HP:0000431Wide nasal bridge1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000422HP:0000431Wide nasal bridge1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000422HP:0000431Wide nasal bridge1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000422HP:0005280Depressed nasal bridge1CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000422HP:0000431Wide nasal bridge1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0000422HP:0000431Wide nasal bridge1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000422HP:0000446Narrow nasal bridge1COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson typeHP:0040281 - Very frequent67
HP:0000422HP:0000446Narrow nasal bridge1COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000422HP:0000431Wide nasal bridge1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000422HP:0005280Depressed nasal bridge1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000422HP:0005280Depressed nasal bridge1COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0000422HP:0005280Depressed nasal bridge1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000422HP:0005280Depressed nasal bridge1COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000422HP:0000431Wide nasal bridge1COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000422HP:0005280Depressed nasal bridge1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000422HP:0005280Depressed nasal bridge1COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0000422HP:0005280Depressed nasal bridge1COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0000422HP:0005280Depressed nasal bridge1COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0000422HP:0005280Depressed nasal bridge1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent222
HP:0000422HP:0005280Depressed nasal bridge1COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III222
HP:0000422HP:0005280Depressed nasal bridge1COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040283 - Occasional177
HP:0000422HP:0005280Depressed nasal bridge1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000422HP:0005280Depressed nasal bridge1COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0000422HP:0005280Depressed nasal bridge1COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000422HP:0000431Wide nasal bridge1COL27A1 CL E G H8530122986OMIM:615155Steel syndrome.1
HP:0000422HP:0005280Depressed nasal bridge1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040281 - Very frequent284
HP:0000422HP:0005280Depressed nasal bridge1COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0000422HP:0005280Depressed nasal bridge1COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040282 - Frequent284
HP:0000422HP:0005280Depressed nasal bridge1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0000422HP:0005280Depressed nasal bridge1COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000422HP:0000446Narrow nasal bridge1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000422HP:0005280Depressed nasal bridge1COL9A3 CL E G H12992219OMIM:620022137
HP:0000422HP:0000431Wide nasal bridge1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000422HP:0000426Prominent nasal bridge1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000422HP:0000431Wide nasal bridge1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0000422HP:0000426Prominent nasal bridge1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0000422HP:0000426Prominent nasal bridge1COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000422HP:0000431Wide nasal bridge1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent6
HP:0000422HP:0000426Prominent nasal bridge1CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000422HP:0000426Prominent nasal bridge1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000422HP:0000431Wide nasal bridge1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000422HP:0000431Wide nasal bridge1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000422HP:0000446Narrow nasal bridge1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000422HP:0005280Depressed nasal bridge1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000422HP:0000431Wide nasal bridge1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000422HP:0005280Depressed nasal bridge1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000422HP:0000426Prominent nasal bridge1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000422HP:0005280Depressed nasal bridge1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000422HP:0000431Wide nasal bridge1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000422HP:0005280Depressed nasal bridge1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000422HP:0000431Wide nasal bridge1CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000422HP:0000426Prominent nasal bridge1CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0000422HP:0005280Depressed nasal bridge1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000422HP:0000431Wide nasal bridge1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000422HP:0000431Wide nasal bridge1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000422HP:0000431Wide nasal bridge1CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0000422HP:0000431Wide nasal bridge1CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0000422HP:0005280Depressed nasal bridge1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000422HP:0005280Depressed nasal bridge1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000422HP:0005280Depressed nasal bridge1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0000422HP:0000426Prominent nasal bridge1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndromeHP:0040283 - Occasional87
HP:0000422HP:0000431Wide nasal bridge1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0000422HP:0000431Wide nasal bridge1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000422HP:0005280Depressed nasal bridge1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000422HP:0005280Depressed nasal bridge1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0000422HP:0000431Wide nasal bridge1DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000422HP:0000431Wide nasal bridge1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000422HP:0005280Depressed nasal bridge1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000422HP:0005281Hypoplastic nasal bridge1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000422HP:0005280Depressed nasal bridge1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040282 - Frequent72
HP:0000422HP:0000431Wide nasal bridge1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0000422HP:0000431Wide nasal bridge1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000422HP:0005280Depressed nasal bridge1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000422HP:0000431Wide nasal bridge1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000422HP:0000426Prominent nasal bridge1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0000422HP:0000431Wide nasal bridge1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0000422HP:0000431Wide nasal bridge1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0000422HP:0000431Wide nasal bridge1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0000422HP:0005280Depressed nasal bridge1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0000422HP:0000446Narrow nasal bridge1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent22
HP:0000422HP:0005280Depressed nasal bridge1DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000422HP:0000431Wide nasal bridge1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000422HP:0005280Depressed nasal bridge1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0000422HP:0005280Depressed nasal bridge1DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000422HP:0000446Narrow nasal bridge1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent3
HP:0000422HP:0005280Depressed nasal bridge1DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000422HP:0005280Depressed nasal bridge1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0000422HP:0000431Wide nasal bridge1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040282 - Frequent79
HP:0000422HP:0005280Depressed nasal bridge1DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0000422HP:0005280Depressed nasal bridge1DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0000422HP:0000426Prominent nasal bridge1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000422HP:0005280Depressed nasal bridge1DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent91
HP:0000422HP:0005280Depressed nasal bridge1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000422HP:0005280Depressed nasal bridge1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040282 - Frequent3
HP:0000422HP:0005280Depressed nasal bridge1DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0000422HP:0000431Wide nasal bridge1DPH5 CL E G H5161124270OMIM:620070
HP:0000422HP:0005280Depressed nasal bridge1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000422HP:0005280Depressed nasal bridge1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0000422HP:0005280Depressed nasal bridge1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000422HP:0000431Wide nasal bridge1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000422HP:0005280Depressed nasal bridge1DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0000422HP:0005280Depressed nasal bridge1DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0000422HP:0005280Depressed nasal bridge1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional4
HP:0000422HP:0000431Wide nasal bridge1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent14
HP:0000422HP:0005280Depressed nasal bridge1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000422HP:0000431Wide nasal bridge1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000422HP:0005280Depressed nasal bridge1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000422HP:0005280Depressed nasal bridge1DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000422HP:0005280Depressed nasal bridge1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000422HP:0000431Wide nasal bridge1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent5
HP:0000422HP:0000431Wide nasal bridge1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000422HP:0005280Depressed nasal bridge1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000422HP:0005280Depressed nasal bridge1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0000422HP:0005280Depressed nasal bridge1DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0000422HP:0005280Depressed nasal bridge1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0000422HP:0000426Prominent nasal bridge1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0000422HP:0000426Prominent nasal bridge1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000422HP:0000426Prominent nasal bridge1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000422HP:0000426Prominent nasal bridge1EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0000422HP:0000426Prominent nasal bridge1EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000422HP:0005280Depressed nasal bridge1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000422HP:0000426Prominent nasal bridge1ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0000422HP:0005280Depressed nasal bridge1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000422HP:0005280Depressed nasal bridge1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0000422HP:0005280Depressed nasal bridge1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000422HP:0005280Depressed nasal bridge1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000422HP:0000431Wide nasal bridge1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000422HP:0000431Wide nasal bridge1EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent67
HP:0000422HP:0000426Prominent nasal bridge1EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent67
HP:0000422HP:0000431Wide nasal bridge1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000422HP:0000426Prominent nasal bridge1EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent55
HP:0000422HP:0000431Wide nasal bridge1EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent55
HP:0000422HP:0000431Wide nasal bridge1EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0000422HP:0005280Depressed nasal bridge1EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0000422HP:0005280Depressed nasal bridge1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0000422HP:0005280Depressed nasal bridge1EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IBHP:0040283 - Occasional45
HP:0000422HP:0000431Wide nasal bridge1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040281 - Very frequent27
HP:0000422HP:0000431Wide nasal bridge1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000422HP:0005280Depressed nasal bridge1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000422HP:0000431Wide nasal bridge1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000422HP:0005280Depressed nasal bridge1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000422HP:0000446Narrow nasal bridge1EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000422HP:0005280Depressed nasal bridge1EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000422HP:0000431Wide nasal bridge1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000422HP:0005280Depressed nasal bridge1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000422HP:0000426Prominent nasal bridge1ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0000422HP:0000431Wide nasal bridge1ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0000422HP:0000431Wide nasal bridge1ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0000422HP:0000431Wide nasal bridge1ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0000422HP:0000426Prominent nasal bridge1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000422HP:0000426Prominent nasal bridge1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0000422HP:0000431Wide nasal bridge1ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0000422HP:0005280Depressed nasal bridge1ERF CL E G H20773444OMIM:617180Chitayat syndrome.12
HP:0000422HP:0005280Depressed nasal bridge1ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0000422HP:0000431Wide nasal bridge1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000422HP:0005280Depressed nasal bridge1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0000422HP:0005280Depressed nasal bridge1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0000422HP:0005280Depressed nasal bridge1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0000422HP:0000431Wide nasal bridge1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000422HP:0005280Depressed nasal bridge1EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000422HP:0000426Prominent nasal bridge1EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000422HP:0000431Wide nasal bridge1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional96
HP:0000422HP:0000426Prominent nasal bridge1EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent102
HP:0000422HP:0005280Depressed nasal bridge1EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0000422HP:0005280Depressed nasal bridge1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000422HP:0005280Depressed nasal bridge1EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0000422HP:0000431Wide nasal bridge1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000422HP:0005280Depressed nasal bridge1EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000422HP:0000426Prominent nasal bridge1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000422HP:0005280Depressed nasal bridge1FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000422HP:0000431Wide nasal bridge1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0000422HP:0005280Depressed nasal bridge1FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000422HP:0000431Wide nasal bridge1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0000422HP:0005280Depressed nasal bridge1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0000422HP:0005280Depressed nasal bridge1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0000422HP:0000431Wide nasal bridge1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0000422HP:0000431Wide nasal bridge1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000422HP:0000426Prominent nasal bridge1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000422HP:0000431Wide nasal bridge1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0000422HP:0005280Depressed nasal bridge1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0000422HP:0000431Wide nasal bridge1FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000422HP:0005280Depressed nasal bridge1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000422HP:0000431Wide nasal bridge1FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 45.8
HP:0000422HP:0005280Depressed nasal bridge1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000422HP:0000431Wide nasal bridge1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000422HP:0000431Wide nasal bridge1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000422HP:0005280Depressed nasal bridge1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional3
HP:0000422HP:0000431Wide nasal bridge1FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040282 - Frequent18
HP:0000422HP:0000446Narrow nasal bridge1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent17
HP:0000422HP:0005280Depressed nasal bridge1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional17
HP:0000422HP:0005280Depressed nasal bridge1FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000422HP:0000431Wide nasal bridge1FGFR1 CL E G H22603688ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent172
HP:0000422HP:0000446Narrow nasal bridge1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent172
HP:0000422HP:0005280Depressed nasal bridge1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional172
HP:0000422HP:0005280Depressed nasal bridge1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000422HP:0005280Depressed nasal bridge1FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000422HP:0005280Depressed nasal bridge1FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0000422HP:0000431Wide nasal bridge1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040281 - Very frequent175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0000422HP:0005280Depressed nasal bridge1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000422HP:0000426Prominent nasal bridge1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000422HP:0005280Depressed nasal bridge1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0000422HP:0003194Short nasal bridge1FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0000422HP:0005280Depressed nasal bridge1FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0000422HP:0005280Depressed nasal bridge1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0000422HP:0005280Depressed nasal bridge1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000422HP:0000426Prominent nasal bridge1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000422HP:0005280Depressed nasal bridge1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0000422HP:0005280Depressed nasal bridge1FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0000422HP:0000431Wide nasal bridge1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000422HP:0005280Depressed nasal bridge1FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0000422HP:0000431Wide nasal bridge1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000422HP:0000431Wide nasal bridge1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000422HP:0000431Wide nasal bridge1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent493
HP:0000422HP:0000431Wide nasal bridge1FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0000422HP:0005280Depressed nasal bridge1FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0000422HP:0005280Depressed nasal bridge1FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0000422HP:0000431Wide nasal bridge1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0000422HP:0005280Depressed nasal bridge1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0000422HP:0005280Depressed nasal bridge1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0000422HP:0005280Depressed nasal bridge1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0000422HP:0000431Wide nasal bridge1FLNB CL E G H23173755OMIM:112310Boomerang dysplasia.233
HP:0000422HP:0005280Depressed nasal bridge1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000422HP:0005280Depressed nasal bridge1FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0000422HP:0005280Depressed nasal bridge1FOCAD CL E G H5491423377OMIM:6199913
HP:0000422HP:0000431Wide nasal bridge1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000422HP:0005280Depressed nasal bridge1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000422HP:0005280Depressed nasal bridge1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0000422HP:0005280Depressed nasal bridge1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000422HP:0000446Narrow nasal bridge1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent48
HP:0000422HP:0000431Wide nasal bridge1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000422HP:0005280Depressed nasal bridge1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000422HP:0000431Wide nasal bridge1FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040282 - Frequent92
HP:0000422HP:0005280Depressed nasal bridge1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000422HP:0000431Wide nasal bridge1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000422HP:0005280Depressed nasal bridge1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000422HP:0000431Wide nasal bridge1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000422HP:0000431Wide nasal bridge1FREM1 CL E G H15832623399ORPHA:3366Isolated trigonocephalyHP:0040282 - Frequent198
HP:0000422HP:0005280Depressed nasal bridge1FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000422HP:0000431Wide nasal bridge1FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000422HP:0000431Wide nasal bridge1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000422HP:0000431Wide nasal bridge1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000422HP:0005280Depressed nasal bridge1FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000422HP:0000431Wide nasal bridge1FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000422HP:0005280Depressed nasal bridge1FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0000422HP:0000431Wide nasal bridge1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000422HP:0000431Wide nasal bridge1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0000422HP:0005280Depressed nasal bridge1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000422HP:0005280Depressed nasal bridge1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000422HP:0000431Wide nasal bridge1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000422HP:0000426Prominent nasal bridge1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000422HP:0000446Narrow nasal bridge1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent2
HP:0000422HP:0000431Wide nasal bridge1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000422HP:0005280Depressed nasal bridge1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000422HP:0000431Wide nasal bridge1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000422HP:0000426Prominent nasal bridge1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0000422HP:0000431Wide nasal bridge1GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000422HP:0005280Depressed nasal bridge1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000422HP:0005280Depressed nasal bridge1GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000422HP:0000446Narrow nasal bridge1GDF5 CL E G H82004220ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent52
HP:0000422HP:0005281Hypoplastic nasal bridge1GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040281 - Very frequent98
HP:0000422HP:0000431Wide nasal bridge1GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent68
HP:0000422HP:0005280Depressed nasal bridge1GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent68
HP:0000422HP:0000431Wide nasal bridge1GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000422HP:0000446Narrow nasal bridge1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0000422HP:0000446Narrow nasal bridge1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000422HP:0000426Prominent nasal bridge1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000422HP:0005280Depressed nasal bridge1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000422HP:0005280Depressed nasal bridge1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000422HP:0000426Prominent nasal bridge1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000422HP:0005280Depressed nasal bridge1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0000422HP:0005280Depressed nasal bridge1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000422HP:0000446Narrow nasal bridge1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent173
HP:0000422HP:0000431Wide nasal bridge1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000422HP:0000431Wide nasal bridge1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040282 - Frequent270
HP:0000422HP:0005280Depressed nasal bridge1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000422HP:0005280Depressed nasal bridge1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000422HP:0005280Depressed nasal bridge1GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0000422HP:0000431Wide nasal bridge1GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0000422HP:0005280Depressed nasal bridge1GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0000422HP:0005280Depressed nasal bridge1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0000422HP:0005280Depressed nasal bridge1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0000422HP:0005280Depressed nasal bridge1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:0000422HP:0005280Depressed nasal bridge1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0000422HP:0005280Depressed nasal bridge1GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000422HP:0005280Depressed nasal bridge1GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000422HP:0005280Depressed nasal bridge1GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0000422HP:0005280Depressed nasal bridge1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000422HP:0000431Wide nasal bridge1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000422HP:0000431Wide nasal bridge1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000422HP:0005280Depressed nasal bridge1GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0000422HP:0000431Wide nasal bridge1GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0000422HP:0005280Depressed nasal bridge1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000422HP:0005280Depressed nasal bridge1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0000422HP:0005280Depressed nasal bridge1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional15
HP:0000422HP:0005280Depressed nasal bridge1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional92
HP:0000422HP:0005280Depressed nasal bridge1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000422HP:0000431Wide nasal bridge1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent8
HP:0000422HP:0000426Prominent nasal bridge1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent8
HP:0000422HP:0000431Wide nasal bridge1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0000422HP:0005280Depressed nasal bridge1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0000422HP:0000431Wide nasal bridge1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0000422HP:0005280Depressed nasal bridge1GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0000422HP:0000431Wide nasal bridge1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0000422HP:0005280Depressed nasal bridge1GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040281 - Very frequent99
HP:0000422HP:0005280Depressed nasal bridge1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0000422HP:0000431Wide nasal bridge1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0000422HP:0000431Wide nasal bridge1GPRASP2 CL E G H11492825169OMIM:301018Deafness, X-linked 7.
HP:0000422HP:0005280Depressed nasal bridge1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0000422HP:0005280Depressed nasal bridge1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0000422HP:0000431Wide nasal bridge1GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000422HP:0005280Depressed nasal bridge1GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000422HP:0005280Depressed nasal bridge1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0000422HP:0000431Wide nasal bridge1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000422HP:0000431Wide nasal bridge1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000422HP:0000431Wide nasal bridge1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000422HP:0000431Wide nasal bridge1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000422HP:0005280Depressed nasal bridge1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000422HP:0005280Depressed nasal bridge1H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000422HP:0000431Wide nasal bridge1H4C5 CL E G H83674790OMIM:619950
HP:0000422HP:0005280Depressed nasal bridge1H4C9 CL E G H82944793OMIM:619951
HP:0000422HP:0000426Prominent nasal bridge1H4C9 CL E G H82944793OMIM:619951
HP:0000422HP:0000431Wide nasal bridge1HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000422HP:0000431Wide nasal bridge1HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000422HP:0005280Depressed nasal bridge1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0000422HP:0005280Depressed nasal bridge1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040284 - Very rare580
HP:0000422HP:0000431Wide nasal bridge1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent11
HP:0000422HP:0005280Depressed nasal bridge1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0000422HP:0005280Depressed nasal bridge1HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0000422HP:0005280Depressed nasal bridge1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000422HP:0000426Prominent nasal bridge1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000422HP:0005280Depressed nasal bridge1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000422HP:0005280Depressed nasal bridge1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000422HP:0005280Depressed nasal bridge1HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040282 - Frequent6
HP:0000422HP:0005280Depressed nasal bridge1HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0000422HP:0000426Prominent nasal bridge1HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000422HP:0000426Prominent nasal bridge1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000422HP:0000446Narrow nasal bridge1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000422HP:0005280Depressed nasal bridge1HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0000422HP:0005280Depressed nasal bridge1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0000422HP:0000431Wide nasal bridge1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000422HP:0000431Wide nasal bridge1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent3
HP:0000422HP:0000426Prominent nasal bridge1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent3
HP:0000422HP:0000426Prominent nasal bridge1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000422HP:0000431Wide nasal bridge1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000422HP:0000426Prominent nasal bridge1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000422HP:0000431Wide nasal bridge1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0000422HP:0000431Wide nasal bridge1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0000422HP:0000446Narrow nasal bridge1HNRNPR CL E G H102365047OMIM:620073
HP:0000422HP:0005280Depressed nasal bridge1HNRNPR CL E G H102365047OMIM:620073
HP:0000422HP:0000431Wide nasal bridge1HNRNPR CL E G H102365047OMIM:620073
HP:0000422HP:0005280Depressed nasal bridge1HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000422HP:0005280Depressed nasal bridge1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0000422HP:0005280Depressed nasal bridge1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000422HP:0000431Wide nasal bridge1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000422HP:0005280Depressed nasal bridge1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional8
HP:0000422HP:0005280Depressed nasal bridge1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000422HP:0005280Depressed nasal bridge1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000422HP:0000431Wide nasal bridge1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0000422HP:0000431Wide nasal bridge1HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0000422HP:0000431Wide nasal bridge1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0000422HP:0000426Prominent nasal bridge1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000422HP:0005280Depressed nasal bridge1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000422HP:0005280Depressed nasal bridge1HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000422HP:0000426Prominent nasal bridge1HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0000422HP:0000431Wide nasal bridge1HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0000422HP:0005280Depressed nasal bridge1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000422HP:0000431Wide nasal bridge1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000422HP:0000431Wide nasal bridge1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0000422HP:0000431Wide nasal bridge1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0000422HP:0000431Wide nasal bridge1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000422HP:0000431Wide nasal bridge1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0000422HP:0005280Depressed nasal bridge1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0000422HP:0005280Depressed nasal bridge1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0000422HP:0005280Depressed nasal bridge1IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0000422HP:0005280Depressed nasal bridge1IDUA CL E G H34255391OMIM:607016Scheie syndrome.115
HP:0000422HP:0000431Wide nasal bridge1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000422HP:0000431Wide nasal bridge1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000422HP:0005280Depressed nasal bridge1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000422HP:0000431Wide nasal bridge1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000422HP:0000426Prominent nasal bridge1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional48
HP:0000422HP:0000431Wide nasal bridge1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000422HP:0000426Prominent nasal bridge1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000422HP:0000431Wide nasal bridge1IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000422HP:0005280Depressed nasal bridge1IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000422HP:0000426Prominent nasal bridge1IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0000422HP:0000431Wide nasal bridge1IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0000422HP:0000426Prominent nasal bridge1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional3
HP:0000422HP:0005280Depressed nasal bridge1IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0000422HP:0005280Depressed nasal bridge1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0000422HP:0005280Depressed nasal bridge1IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly.2
HP:0000422HP:0000431Wide nasal bridge1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000422HP:0000426Prominent nasal bridge1IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040282 - Frequent5
HP:0000422HP:0000426Prominent nasal bridge1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000422HP:0000431Wide nasal bridge1IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistanceHP:0040282 - Frequent268
HP:0000422HP:0000431Wide nasal bridge1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000422HP:0005280Depressed nasal bridge1IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0000422HP:0005280Depressed nasal bridge1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000422HP:0000431Wide nasal bridge1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000422HP:0000431Wide nasal bridge1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000422HP:0000431Wide nasal bridge1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000422HP:0000426Prominent nasal bridge1INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0000422HP:0000426Prominent nasal bridge1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000422HP:0000426Prominent nasal bridge1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000422HP:0005280Depressed nasal bridge1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0000422HP:0005280Depressed nasal bridge1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0000422HP:0000426Prominent nasal bridge1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000422HP:0000431Wide nasal bridge1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000422HP:0005285Absent nasal bridge1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000422HP:0005280Depressed nasal bridge1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0000422HP:0000426Prominent nasal bridge1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000422HP:0005280Depressed nasal bridge1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000422HP:0000446Narrow nasal bridge1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000422HP:0005280Depressed nasal bridge1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000422HP:0000431Wide nasal bridge1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000422HP:0000431Wide nasal bridge1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000422HP:0005280Depressed nasal bridge1IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0000422HP:0005280Depressed nasal bridge1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000422HP:0000426Prominent nasal bridge1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent2
HP:0000422HP:0000431Wide nasal bridge1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent2
HP:0000422HP:0000426Prominent nasal bridge1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000422HP:0000431Wide nasal bridge1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000422HP:0000426Prominent nasal bridge1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000422HP:0000426Prominent nasal bridge1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000422HP:0000431Wide nasal bridge1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000422HP:0005280Depressed nasal bridge1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000422HP:0000426Prominent nasal bridge1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000422HP:0000426Prominent nasal bridge1KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0000422HP:0000426Prominent nasal bridge1KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0000422HP:0000426Prominent nasal bridge1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000422HP:0005280Depressed nasal bridge1KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0000422HP:0005280Depressed nasal bridge1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000422HP:0000426Prominent nasal bridge1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000422HP:0000431Wide nasal bridge1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0000422HP:0000426Prominent nasal bridge1KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000422HP:0005280Depressed nasal bridge1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0000422HP:0000431Wide nasal bridge1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000422HP:0005280Depressed nasal bridge1KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent5
HP:0000422HP:0005280Depressed nasal bridge1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000422HP:0005280Depressed nasal bridge1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0000422HP:0000431Wide nasal bridge1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000422HP:0000431Wide nasal bridge1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000422HP:0000431Wide nasal bridge1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000422HP:0000431Wide nasal bridge1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000422HP:0000446Narrow nasal bridge1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0000422HP:0000431Wide nasal bridge1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0000422HP:0000446Narrow nasal bridge1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000422HP:0000431Wide nasal bridge1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000422HP:0000431Wide nasal bridge1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000422HP:0005280Depressed nasal bridge1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0000422HP:0000431Wide nasal bridge1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000422HP:0000431Wide nasal bridge1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0000422HP:0000431Wide nasal bridge1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000422HP:0000426Prominent nasal bridge1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000422HP:0000426Prominent nasal bridge1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000422HP:0000426Prominent nasal bridge1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0000422HP:0000431Wide nasal bridge1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000422HP:0000431Wide nasal bridge1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000422HP:0005280Depressed nasal bridge1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000422HP:0000426Prominent nasal bridge1KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0000422HP:0005280Depressed nasal bridge1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000422HP:0005280Depressed nasal bridge1KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0000422HP:0000426Prominent nasal bridge1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0000422HP:0000431Wide nasal bridge1KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV.4
HP:0000422HP:0005280Depressed nasal bridge1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000422HP:0000431Wide nasal bridge1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000422HP:0000431Wide nasal bridge1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000422HP:0000431Wide nasal bridge1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000422HP:0000431Wide nasal bridge1KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12HP:0040283 - Occasional9
HP:0000422HP:0000431Wide nasal bridge1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000422HP:0005280Depressed nasal bridge1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0000422HP:0000431Wide nasal bridge1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0000422HP:0000431Wide nasal bridge1KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0000422HP:0000426Prominent nasal bridge1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0000422HP:0000431Wide nasal bridge1KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000422HP:0000426Prominent nasal bridge1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000422HP:0005280Depressed nasal bridge1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional3
HP:0000422HP:0005280Depressed nasal bridge1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional14
HP:0000422HP:0000431Wide nasal bridge1KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0000422HP:0000431Wide nasal bridge1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000422HP:0005280Depressed nasal bridge1KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0000422HP:0000431Wide nasal bridge1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000422HP:0000431Wide nasal bridge1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000422HP:0000431Wide nasal bridge1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000422HP:0000431Wide nasal bridge1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000422HP:0000431Wide nasal bridge1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000422HP:0005280Depressed nasal bridge1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000422HP:0000431Wide nasal bridge1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000422HP:0000431Wide nasal bridge1KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0000422HP:0005280Depressed nasal bridge1KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0000422HP:0000431Wide nasal bridge1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000422HP:0005280Depressed nasal bridge1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000422HP:0005281Hypoplastic nasal bridge1KRAS CL E G H38456407OMIM:609942Noonan syndrome 3.196
HP:0000422HP:0005280Depressed nasal bridge1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndromeHP:0040283 - Occasional196
HP:0000422HP:0000431Wide nasal bridge1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndromeHP:0040283 - Occasional196
HP:0000422HP:0000431Wide nasal bridge1KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth typeHP:0040283 - Occasional1
HP:0000422HP:0005280Depressed nasal bridge1KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth typeHP:0040283 - Occasional1
HP:0000422HP:0005280Depressed nasal bridge1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0000422HP:0005280Depressed nasal bridge1LAMA5 CL E G H39116485OMIM:6200765
HP:0000422HP:0005280Depressed nasal bridge1LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0000422HP:0000431Wide nasal bridge1LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0000422HP:0005280Depressed nasal bridge1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000422HP:0005280Depressed nasal bridge1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000422HP:0005280Depressed nasal bridge1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0000422HP:0000426Prominent nasal bridge1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000422HP:0000431Wide nasal bridge1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000422HP:0000431Wide nasal bridge1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000422HP:0005280Depressed nasal bridge1LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0000422HP:0005280Depressed nasal bridge1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0000422HP:0005280Depressed nasal bridge1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0000422HP:0005280Depressed nasal bridge1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000422HP:0000431Wide nasal bridge1LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0000422HP:0000431Wide nasal bridge1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27.25
HP:0000422HP:0000431Wide nasal bridge1LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0000422HP:0000431Wide nasal bridge1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000422HP:0000426Prominent nasal bridge1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000422HP:0005280Depressed nasal bridge1LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0000422HP:0005280Depressed nasal bridge1LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0000422HP:0000431Wide nasal bridge1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000422HP:0005280Depressed nasal bridge1LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000422HP:0005280Depressed nasal bridge1LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0000422HP:0000431Wide nasal bridge1LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0000422HP:0000431Wide nasal bridge1LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000422HP:0005280Depressed nasal bridge1LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0000422HP:0000431Wide nasal bridge1LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0000422HP:0000431Wide nasal bridge1LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000422HP:0000431Wide nasal bridge1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000422HP:0000426Prominent nasal bridge1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional4
HP:0000422HP:0005280Depressed nasal bridge1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0000422HP:0005280Depressed nasal bridge1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000422HP:0005280Depressed nasal bridge1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000422HP:0005280Depressed nasal bridge1MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000422HP:0000431Wide nasal bridge1MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome.21
HP:0000422HP:0000431Wide nasal bridge1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000422HP:0000431Wide nasal bridge1MAFB CL E G H99356408ORPHA:2774Multicentric carpo-tarsal osteolysis with or without nephropathyHP:0040283 - Occasional63
HP:0000422HP:0000446Narrow nasal bridge1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000422HP:0000446Narrow nasal bridge1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000422HP:0000431Wide nasal bridge1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000422HP:0000431Wide nasal bridge1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000422HP:0000431Wide nasal bridge1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000422HP:0005280Depressed nasal bridge1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000422HP:0005280Depressed nasal bridge1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000422HP:0005280Depressed nasal bridge1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000422HP:0000431Wide nasal bridge1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0000422HP:0000431Wide nasal bridge1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent11
HP:0000422HP:0005280Depressed nasal bridge1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0000422HP:0000431Wide nasal bridge1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0000422HP:0000426Prominent nasal bridge1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000422HP:0000431Wide nasal bridge1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000422HP:0000426Prominent nasal bridge1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0000422HP:0000431Wide nasal bridge1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000422HP:0005280Depressed nasal bridge1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000422HP:0000431Wide nasal bridge1MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0000422HP:0005280Depressed nasal bridge1MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0000422HP:0005280Depressed nasal bridge1MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000422HP:0000446Narrow nasal bridge1MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0000422HP:0000431Wide nasal bridge1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000422HP:0000426Prominent nasal bridge1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000422HP:0005280Depressed nasal bridge1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type.950
HP:0000422HP:0000426Prominent nasal bridge1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000422HP:0000426Prominent nasal bridge1MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent228
HP:0000422HP:0000446Narrow nasal bridge1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000422HP:0005280Depressed nasal bridge1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000422HP:0000431Wide nasal bridge1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000422HP:0000426Prominent nasal bridge1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000422HP:0005280Depressed nasal bridge1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000422HP:0000431Wide nasal bridge1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000422HP:0000426Prominent nasal bridge1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000422HP:0000431Wide nasal bridge1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0000422HP:0005280Depressed nasal bridge1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000422HP:0005280Depressed nasal bridge1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0000422HP:0005280Depressed nasal bridge1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000422HP:0005280Depressed nasal bridge1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0000422HP:0005280Depressed nasal bridge1MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000422HP:0000431Wide nasal bridge1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000422HP:0005280Depressed nasal bridge1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0000422HP:0005280Depressed nasal bridge1MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000422HP:0000431Wide nasal bridge1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000422HP:0005280Depressed nasal bridge1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000422HP:0000426Prominent nasal bridge1MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040283 - Occasional7
HP:0000422HP:0000431Wide nasal bridge1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000422HP:0005280Depressed nasal bridge1MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000422HP:0005280Depressed nasal bridge1METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44HP:0040283 - Occasional13
HP:0000422HP:0000431Wide nasal bridge1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000422HP:0000426Prominent nasal bridge1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000422HP:0005280Depressed nasal bridge1MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040281 - Very frequent33
HP:0000422HP:0005280Depressed nasal bridge1MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000422HP:0000426Prominent nasal bridge1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000422HP:0000431Wide nasal bridge1MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040281 - Very frequent57
HP:0000422HP:0000431Wide nasal bridge1MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000422HP:0000431Wide nasal bridge1MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0000422HP:0005280Depressed nasal bridge1MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0000422HP:0000431Wide nasal bridge1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0000422HP:0000431Wide nasal bridge1MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent91
HP:0000422HP:0000426Prominent nasal bridge1MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent91
HP:0000422HP:0000426Prominent nasal bridge1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional69
HP:0000422HP:0000446Narrow nasal bridge1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000422HP:0000446Narrow nasal bridge1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000426Prominent nasal bridge1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional127
HP:0000422HP:0000426Prominent nasal bridge1MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0000422HP:0000431Wide nasal bridge1MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000422HP:0000426Prominent nasal bridge1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000422HP:0000431Wide nasal bridge1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000422HP:0000446Narrow nasal bridge1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0000422HP:0005280Depressed nasal bridge1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000422HP:0005280Depressed nasal bridge1MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000422HP:0005280Depressed nasal bridge1MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0000422HP:0005280Depressed nasal bridge1MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040283 - Occasional183
HP:0000422HP:0005280Depressed nasal bridge1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0000422HP:0005280Depressed nasal bridge1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000422HP:0005280Depressed nasal bridge1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000422HP:0005280Depressed nasal bridge1MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent72
HP:0000422HP:0000431Wide nasal bridge1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0000422HP:0000431Wide nasal bridge1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000422HP:0033142Long nasal bridge1MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0000422HP:0000431Wide nasal bridge1MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0000422HP:0000431Wide nasal bridge1MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0000422HP:0005280Depressed nasal bridge1MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000422HP:0005280Depressed nasal bridge1MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0000422HP:0000431Wide nasal bridge1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0000422HP:0005280Depressed nasal bridge1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000422HP:0000431Wide nasal bridge1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000422HP:0005280Depressed nasal bridge1NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040282 - Frequent47
HP:0000422HP:0005280Depressed nasal bridge1NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000422HP:0000431Wide nasal bridge1NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0000422HP:0000431Wide nasal bridge1NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0000422HP:0000431Wide nasal bridge1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0000422HP:0000426Prominent nasal bridge1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0000422HP:0000431Wide nasal bridge1NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0000422HP:0005280Depressed nasal bridge1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0000422HP:0000426Prominent nasal bridge1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0000422HP:0000431Wide nasal bridge1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000422HP:0000431Wide nasal bridge1NDE1 CL E G H5482017619OMIM:614019Lissencephaly 496
HP:0000422HP:0000431Wide nasal bridge1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0000422HP:0000426Prominent nasal bridge1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0000422HP:0000446Narrow nasal bridge1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0000422HP:0000431Wide nasal bridge1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent3
HP:0000422HP:0000431Wide nasal bridge1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000422HP:0000431Wide nasal bridge1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0000422HP:0000431Wide nasal bridge1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000422HP:0000431Wide nasal bridge1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000422HP:0000431Wide nasal bridge1NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0000422HP:0005280Depressed nasal bridge1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0000422HP:0000426Prominent nasal bridge1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000422HP:0005280Depressed nasal bridge1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000422HP:0000431Wide nasal bridge1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0000422HP:0005280Depressed nasal bridge1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0000422HP:0005280Depressed nasal bridge1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0000422HP:0000426Prominent nasal bridge1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0000422HP:0000431Wide nasal bridge1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0000422HP:0000446Narrow nasal bridge1NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development.1
HP:0000422HP:0005280Depressed nasal bridge1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0000422HP:0005280Depressed nasal bridge1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000422HP:0000426Prominent nasal bridge1NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040281 - Very frequent88
HP:0000422HP:0000426Prominent nasal bridge1NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000422HP:0005280Depressed nasal bridge1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000422HP:0005280Depressed nasal bridge1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000422HP:0005280Depressed nasal bridge1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000422HP:0000446Narrow nasal bridge1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent45
HP:0000422HP:0000431Wide nasal bridge1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000422HP:0000446Narrow nasal bridge1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000422HP:0000426Prominent nasal bridge1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000422HP:0000446Narrow nasal bridge1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000422HP:0000431Wide nasal bridge1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000422HP:0003194Short nasal bridge1NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000422HP:0000446Narrow nasal bridge1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000422HP:0000426Prominent nasal bridge1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional85
HP:0000422HP:0000426Prominent nasal bridge1NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0000422HP:0005280Depressed nasal bridge1NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux typeHP:0040282 - Frequent53
HP:0000422HP:0000431Wide nasal bridge1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000422HP:0000426Prominent nasal bridge1NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000422HP:0003194Short nasal bridge1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000422HP:0000426Prominent nasal bridge1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000422HP:0005280Depressed nasal bridge1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6.102
HP:0000422HP:0000431Wide nasal bridge1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6.102
HP:0000422HP:0005280Depressed nasal bridge1NRCAM CL E G H48977994OMIM:6198332
HP:0000422HP:0000431Wide nasal bridge1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000422HP:0005280Depressed nasal bridge1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000422HP:0005280Depressed nasal bridge1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000422HP:0000431Wide nasal bridge1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000422HP:0000431Wide nasal bridge1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0000422HP:0000431Wide nasal bridge1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000422HP:0000426Prominent nasal bridge1NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000422HP:0000426Prominent nasal bridge1NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000422HP:0005280Depressed nasal bridge1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0000422HP:0005280Depressed nasal bridge1NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000422HP:0005280Depressed nasal bridge1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional6
HP:0000422HP:0005280Depressed nasal bridge1NSRP1 CL E G H8408125305OMIM:620001
HP:0000422HP:0005280Depressed nasal bridge1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000422HP:0000426Prominent nasal bridge1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0000422HP:0000431Wide nasal bridge1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0000422HP:0000431Wide nasal bridge1NUDT2 CL E G H3188049OMIM:619844
HP:0000422HP:0000431Wide nasal bridge1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000422HP:0005280Depressed nasal bridge1NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0000422HP:0005280Depressed nasal bridge1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000422HP:0000431Wide nasal bridge1NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000422HP:0005280Depressed nasal bridge1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000422HP:0000431Wide nasal bridge1OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10201
HP:0000422HP:0000431Wide nasal bridge1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000422HP:0000431Wide nasal bridge1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040281 - Very frequent201
HP:0000422HP:0000426Prominent nasal bridge1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0000422HP:0000431Wide nasal bridge1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000422HP:0000431Wide nasal bridge1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0000422HP:0000426Prominent nasal bridge1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000422HP:0000426Prominent nasal bridge1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000422HP:0000426Prominent nasal bridge1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000422HP:0000431Wide nasal bridge1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0000422HP:0005280Depressed nasal bridge1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0000422HP:0000431Wide nasal bridge1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000422HP:0000431Wide nasal bridge1PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040283 - Occasional641
HP:0000422HP:0005280Depressed nasal bridge1PAICS CL E G H106068587OMIM:619859
HP:0000422HP:0005280Depressed nasal bridge1PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040283 - Occasional
HP:0000422HP:0000426Prominent nasal bridge1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000422HP:0005280Depressed nasal bridge1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0000422HP:0000431Wide nasal bridge1PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000422HP:0005280Depressed nasal bridge1PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0000422HP:0000431Wide nasal bridge1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000422HP:0005280Depressed nasal bridge1PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0000422HP:0000431Wide nasal bridge1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040282 - Frequent59
HP:0000422HP:0000446Narrow nasal bridge1PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040281 - Very frequent59
HP:0000422HP:0000431Wide nasal bridge1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000422HP:0000426Prominent nasal bridge1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000422HP:0000431Wide nasal bridge1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000422HP:0000431Wide nasal bridge1PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000422HP:0000431Wide nasal bridge1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1PCDHGC4 CL E G H560988717OMIM:619880
HP:0000422HP:0005280Depressed nasal bridge1PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000422HP:0000431Wide nasal bridge1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040282 - Frequent531
HP:0000422HP:0000426Prominent nasal bridge1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000422HP:0005280Depressed nasal bridge1PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0000422HP:0000431Wide nasal bridge1PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0000422HP:0005280Depressed nasal bridge1PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000422HP:0005280Depressed nasal bridge1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0000422HP:0005280Depressed nasal bridge1PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0000422HP:0000431Wide nasal bridge1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000422HP:0000431Wide nasal bridge1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000422HP:0000426Prominent nasal bridge1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0000422HP:0000431Wide nasal bridge1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000422HP:0000431Wide nasal bridge1PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000422HP:0000426Prominent nasal bridge1PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000422HP:0000431Wide nasal bridge1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0000422HP:0005280Depressed nasal bridge1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0000422HP:0005280Depressed nasal bridge1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000422HP:0000431Wide nasal bridge1PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0000422HP:0000431Wide nasal bridge1PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0000422HP:0000431Wide nasal bridge1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0000422HP:0005280Depressed nasal bridge1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0000422HP:0000431Wide nasal bridge1PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0000422HP:0000431Wide nasal bridge1PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0000422HP:0005280Depressed nasal bridge1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0000422HP:0000431Wide nasal bridge1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0000422HP:0000431Wide nasal bridge1PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0000422HP:0005280Depressed nasal bridge1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0000422HP:0000431Wide nasal bridge1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0000422HP:0000431Wide nasal bridge1PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0000422HP:0000431Wide nasal bridge1PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger).65
HP:0000422HP:0000431Wide nasal bridge1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0000422HP:0005280Depressed nasal bridge1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0000422HP:0000431Wide nasal bridge1PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0000422HP:0005280Depressed nasal bridge1PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0000422HP:0000431Wide nasal bridge1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0000422HP:0005280Depressed nasal bridge1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0000422HP:0000431Wide nasal bridge1PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0000422HP:0005280Depressed nasal bridge1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0000422HP:0000431Wide nasal bridge1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0000422HP:0000431Wide nasal bridge1PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0000422HP:0000431Wide nasal bridge1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0000422HP:0005280Depressed nasal bridge1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0000422HP:0000431Wide nasal bridge1PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0000422HP:0000431Wide nasal bridge1PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger).62
HP:0000422HP:0000431Wide nasal bridge1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0000422HP:0005280Depressed nasal bridge1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0000422HP:0000431Wide nasal bridge1PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0000422HP:0000431Wide nasal bridge1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0000422HP:0005280Depressed nasal bridge1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0000422HP:0000431Wide nasal bridge1PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0000422HP:0005280Depressed nasal bridge1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0000422HP:0000431Wide nasal bridge1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0000422HP:0000431Wide nasal bridge1PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0000422HP:0005280Depressed nasal bridge1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0000422HP:0000431Wide nasal bridge1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0000422HP:0000431Wide nasal bridge1PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0000422HP:0000431Wide nasal bridge1PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000422HP:0000431Wide nasal bridge1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0000422HP:0005280Depressed nasal bridge1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0000422HP:0000431Wide nasal bridge1PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0000422HP:0005280Depressed nasal bridge1PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0000422HP:0000431Wide nasal bridge1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0000422HP:0005280Depressed nasal bridge1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0000422HP:0005280Depressed nasal bridge1PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0000422HP:0005280Depressed nasal bridge1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000422HP:0000431Wide nasal bridge1PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0000422HP:0000426Prominent nasal bridge1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000422HP:0000431Wide nasal bridge1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0000422HP:0000431Wide nasal bridge1PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0000422HP:0000431Wide nasal bridge1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent20
HP:0000422HP:0000426Prominent nasal bridge1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000422HP:0000426Prominent nasal bridge1PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent2
HP:0000422HP:0000426Prominent nasal bridge1PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0000422HP:0000431Wide nasal bridge1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0000422HP:0005280Depressed nasal bridge1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000422HP:0000431Wide nasal bridge1PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000422HP:0005280Depressed nasal bridge1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000422HP:0000431Wide nasal bridge1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0000422HP:0000431Wide nasal bridge1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent36
HP:0000422HP:0000426Prominent nasal bridge1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000422HP:0005280Depressed nasal bridge1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000422HP:0000431Wide nasal bridge1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000422HP:0000431Wide nasal bridge1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000422HP:0005280Depressed nasal bridge1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000422HP:0000431Wide nasal bridge1PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0000422HP:0000426Prominent nasal bridge1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000422HP:0000431Wide nasal bridge1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent84
HP:0000422HP:0005280Depressed nasal bridge1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0000422HP:0005280Depressed nasal bridge1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0000422HP:0005280Depressed nasal bridge1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040281 - Very frequent12
HP:0000422HP:0000431Wide nasal bridge1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0000422HP:0005280Depressed nasal bridge1PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000422HP:0005280Depressed nasal bridge1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000422HP:0000431Wide nasal bridge1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000422HP:0000431Wide nasal bridge1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent57
HP:0000422HP:0000426Prominent nasal bridge1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000422HP:0000431Wide nasal bridge1PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0000422HP:0000431Wide nasal bridge1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent6
HP:0000422HP:0000426Prominent nasal bridge1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000422HP:0005280Depressed nasal bridge1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0000422HP:0000426Prominent nasal bridge1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000422HP:0000431Wide nasal bridge1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000422HP:0005280Depressed nasal bridge1PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000422HP:0005280Depressed nasal bridge1PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040283 - Occasional162
HP:0000422HP:0005280Depressed nasal bridge1PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0000422HP:0000431Wide nasal bridge1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000422HP:0005280Depressed nasal bridge1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000422HP:0000431Wide nasal bridge1PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0000422HP:0005280Depressed nasal bridge1PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0000422HP:0000431Wide nasal bridge1PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000422HP:0000431Wide nasal bridge1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0000422HP:0005280Depressed nasal bridge1PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent12
HP:0000422HP:0005280Depressed nasal bridge1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0000422HP:0000431Wide nasal bridge1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000422HP:0005280Depressed nasal bridge1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000422HP:0000431Wide nasal bridge1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000422HP:0000431Wide nasal bridge1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000422HP:0005280Depressed nasal bridge1PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000422HP:0000431Wide nasal bridge1PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent11
HP:0000422HP:0005280Depressed nasal bridge1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000422HP:0005280Depressed nasal bridge1PLXNA1 CL E G H53619099OMIM:619955
HP:0000422HP:0005280Depressed nasal bridge1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000422HP:0000426Prominent nasal bridge1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0000422HP:0005280Depressed nasal bridge1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0000422HP:0005280Depressed nasal bridge1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000422HP:0005280Depressed nasal bridge1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000422HP:0005280Depressed nasal bridge1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000422HP:0005280Depressed nasal bridge1POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0000422HP:0000426Prominent nasal bridge1POLR1A CL E G H2588517264ORPHA:1200Burn-McKeown syndromeHP:0040282 - Frequent8
HP:0000422HP:0000431Wide nasal bridge1POLR1A CL E G H2588517264ORPHA:1200Burn-McKeown syndromeHP:0040283 - Occasional8
HP:0000422HP:0000431Wide nasal bridge1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent38
HP:0000422HP:0000431Wide nasal bridge1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent31
HP:0000422HP:0005280Depressed nasal bridge1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000422HP:0005280Depressed nasal bridge1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000422HP:0003194Short nasal bridge1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0000422HP:0000431Wide nasal bridge1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000422HP:0005280Depressed nasal bridge1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000422HP:0005280Depressed nasal bridge1POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0000422HP:0005280Depressed nasal bridge1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000422HP:0000446Narrow nasal bridge1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000422HP:0000446Narrow nasal bridge1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0000422HP:0005280Depressed nasal bridge1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0000422HP:0005280Depressed nasal bridge1POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0000422HP:0005280Depressed nasal bridge1PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0000446Narrow nasal bridge1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000422HP:0000431Wide nasal bridge1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000422HP:0000431Wide nasal bridge1PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndromeHP:0040281 - Very frequent28
HP:0000422HP:0000431Wide nasal bridge1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000422HP:0000431Wide nasal bridge1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000422HP:0000431Wide nasal bridge1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0000422HP:0005280Depressed nasal bridge1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0000422HP:0005280Depressed nasal bridge1PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0000422HP:0005280Depressed nasal bridge1PRIM1 CL E G H55579369OMIM:620005
HP:0000422HP:0000431Wide nasal bridge1PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0000422HP:0005280Depressed nasal bridge1PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0000422HP:0005280Depressed nasal bridge1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000422HP:0005280Depressed nasal bridge1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0000422HP:0005280Depressed nasal bridge1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000422HP:0005280Depressed nasal bridge1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0000422HP:0005280Depressed nasal bridge1PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0000422HP:0000431Wide nasal bridge1PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0000422HP:0000431Wide nasal bridge1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000422HP:0000431Wide nasal bridge1PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000422HP:0005280Depressed nasal bridge1PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000422HP:0005280Depressed nasal bridge1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional9
HP:0000422HP:0005280Depressed nasal bridge1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional34
HP:0000422HP:0000431Wide nasal bridge1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000422HP:0005280Depressed nasal bridge1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0000422HP:0000431Wide nasal bridge1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000422HP:0000431Wide nasal bridge1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000422HP:0000431Wide nasal bridge1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000422HP:0000431Wide nasal bridge1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000422HP:0000431Wide nasal bridge1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000422HP:0000431Wide nasal bridge1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000422HP:0005280Depressed nasal bridge1PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000422HP:0005280Depressed nasal bridge1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0000422HP:0033142Long nasal bridge1PSMC1 CL E G H57009547OMIM:6200711
HP:0000422HP:0000431Wide nasal bridge1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000422HP:0000431Wide nasal bridge1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0000422HP:0000431Wide nasal bridge1PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040282 - Frequent665
HP:0000422HP:0000446Narrow nasal bridge1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent665
HP:0000422HP:0000431Wide nasal bridge1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0000422HP:0000431Wide nasal bridge1PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040282 - Frequent40
HP:0000422HP:0005280Depressed nasal bridge1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0000422HP:0005280Depressed nasal bridge1PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0000422HP:0005280Depressed nasal bridge1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000422HP:0005280Depressed nasal bridge1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0000422HP:0000431Wide nasal bridge1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000422HP:0000431Wide nasal bridge1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000422HP:0000431Wide nasal bridge1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000422HP:0000431Wide nasal bridge1PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000422HP:0000431Wide nasal bridge1PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0000422HP:0000431Wide nasal bridge1PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0000422HP:0000431Wide nasal bridge1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000422HP:0005280Depressed nasal bridge1PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000422HP:0000431Wide nasal bridge1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000422HP:0000446Narrow nasal bridge1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000446Narrow nasal bridge1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000431Wide nasal bridge1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0000422HP:0005280Depressed nasal bridge1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000422HP:0005280Depressed nasal bridge1RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0000422HP:0000431Wide nasal bridge1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0000422HP:0000431Wide nasal bridge1RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000422HP:0005280Depressed nasal bridge1RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0000422HP:0005280Depressed nasal bridge1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0000422HP:0000431Wide nasal bridge1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0000422HP:0000426Prominent nasal bridge1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000422HP:0000426Prominent nasal bridge1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 48.3
HP:0000422HP:0000426Prominent nasal bridge1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000422HP:0000431Wide nasal bridge1RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000422HP:0005280Depressed nasal bridge1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000422HP:0000431Wide nasal bridge1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000422HP:0005280Depressed nasal bridge1RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000422HP:0005280Depressed nasal bridge1RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000422HP:0000431Wide nasal bridge1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000422HP:0000431Wide nasal bridge1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000422HP:0005280Depressed nasal bridge1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000422HP:0000431Wide nasal bridge1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000422HP:0000431Wide nasal bridge1RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000422HP:0005280Depressed nasal bridge1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000422HP:0005280Depressed nasal bridge1RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent73
HP:0000422HP:0000431Wide nasal bridge1RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000422HP:0000431Wide nasal bridge1RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0000422HP:0000426Prominent nasal bridge1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0000422HP:0000426Prominent nasal bridge1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040281 - Very frequent365
HP:0000422HP:0000431Wide nasal bridge1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040281 - Very frequent365
HP:0000422HP:0000431Wide nasal bridge1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000422HP:0000431Wide nasal bridge1RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0000422HP:0000431Wide nasal bridge1RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0000422HP:0000431Wide nasal bridge1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000422HP:0000431Wide nasal bridge1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000422HP:0000426Prominent nasal bridge1RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0000422HP:0000446Narrow nasal bridge1RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0000422HP:0000426Prominent nasal bridge1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000422HP:0005280Depressed nasal bridge1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000422HP:0000431Wide nasal bridge1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000422HP:0000426Prominent nasal bridge1RELN CL E G H56499957OMIM:257320Lissencephaly 2.334
HP:0000422HP:0000431Wide nasal bridge1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0000422HP:0005280Depressed nasal bridge1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0000422HP:0000431Wide nasal bridge1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0000422HP:0000431Wide nasal bridge1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000422HP:0000431Wide nasal bridge1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000422HP:0000431Wide nasal bridge1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000422HP:0005280Depressed nasal bridge1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000422HP:0000431Wide nasal bridge1RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000422HP:0005280Depressed nasal bridge1RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0000422HP:0005280Depressed nasal bridge1RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0000422HP:0000431Wide nasal bridge1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000422HP:0000431Wide nasal bridge1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000422HP:0000426Prominent nasal bridge1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000422HP:0000431Wide nasal bridge1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0000422HP:0005280Depressed nasal bridge1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0000422HP:0000446Narrow nasal bridge1RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000422HP:0000446Narrow nasal bridge1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000422HP:0000446Narrow nasal bridge1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000422HP:0000431Wide nasal bridge1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000422HP:0005280Depressed nasal bridge1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000422HP:0000431Wide nasal bridge1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0000422HP:0005280Depressed nasal bridge1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000422HP:0000431Wide nasal bridge1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000422HP:0000431Wide nasal bridge1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000422HP:0000431Wide nasal bridge1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000422HP:0000431Wide nasal bridge1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000422HP:0000431Wide nasal bridge1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000422HP:0000431Wide nasal bridge1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000422HP:0000431Wide nasal bridge1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000422HP:0000426Prominent nasal bridge1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0000422HP:0000426Prominent nasal bridge1RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0000422HP:0000431Wide nasal bridge1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000422HP:0000431Wide nasal bridge1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000422HP:0005280Depressed nasal bridge1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000422HP:0005280Depressed nasal bridge1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000422HP:0000431Wide nasal bridge1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000422HP:0005280Depressed nasal bridge1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0000431Wide nasal bridge1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0005280Depressed nasal bridge1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000422HP:0000431Wide nasal bridge1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000422HP:0005280Depressed nasal bridge1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0000431Wide nasal bridge1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0000431Wide nasal bridge1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0005280Depressed nasal bridge1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0000431Wide nasal bridge1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0005280Depressed nasal bridge1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0000431Wide nasal bridge1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000422HP:0005280Depressed nasal bridge1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000422HP:0005280Depressed nasal bridge1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000422HP:0000431Wide nasal bridge1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000422HP:0000431Wide nasal bridge1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000422HP:0005280Depressed nasal bridge1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000422HP:0005280Depressed nasal bridge1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0000431Wide nasal bridge1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000422HP:0000431Wide nasal bridge1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000422HP:0005280Depressed nasal bridge1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000422HP:0005280Depressed nasal bridge1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000422HP:0000431Wide nasal bridge1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000422HP:0000431Wide nasal bridge1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0005280Depressed nasal bridge1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0005280Depressed nasal bridge1RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000422HP:0005280Depressed nasal bridge1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000422HP:0000431Wide nasal bridge1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000422HP:0005280Depressed nasal bridge1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000422HP:0000431Wide nasal bridge1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000422HP:0000431Wide nasal bridge1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0005280Depressed nasal bridge1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0005280Depressed nasal bridge1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0000431Wide nasal bridge1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0000431Wide nasal bridge1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000422HP:0005280Depressed nasal bridge1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000422HP:0005280Depressed nasal bridge1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0000422HP:0000431Wide nasal bridge1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000422HP:0005280Depressed nasal bridge1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000422HP:0000431Wide nasal bridge1RPS7 CL E G H620110440OMIM:612563Diamond-Blackfan anemia 8.20
HP:0000422HP:0000426Prominent nasal bridge1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0000422HP:0005280Depressed nasal bridge1RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0000422HP:0000431Wide nasal bridge1RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0000422HP:0005280Depressed nasal bridge1RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000422HP:0005280Depressed nasal bridge1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000422HP:0005280Depressed nasal bridge1RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000422HP:0000426Prominent nasal bridge1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000422HP:0000431Wide nasal bridge1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000422HP:0005280Depressed nasal bridge1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000422HP:0005280Depressed nasal bridge1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000422HP:0000431Wide nasal bridge1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0000422HP:0000431Wide nasal bridge1RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040283 - Occasional1200
HP:0000422HP:0000431Wide nasal bridge1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000422HP:0000431Wide nasal bridge1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000422HP:0000426Prominent nasal bridge1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040282 - Frequent34
HP:0000422HP:0000426Prominent nasal bridge1SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000422HP:0000426Prominent nasal bridge1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0000422HP:0000431Wide nasal bridge1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000422HP:0000426Prominent nasal bridge1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000422HP:0000431Wide nasal bridge1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0000422HP:0005280Depressed nasal bridge1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0000422HP:0005280Depressed nasal bridge1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0000422HP:0000431Wide nasal bridge1SCNM1 CL E G H7900523136OMIM:620107
HP:0000422HP:0005280Depressed nasal bridge1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0000422HP:0000426Prominent nasal bridge1SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000422HP:0005280Depressed nasal bridge1SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000422HP:0000426Prominent nasal bridge1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional61
HP:0000422HP:0000426Prominent nasal bridge1SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000422HP:0000426Prominent nasal bridge1SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000422HP:0000431Wide nasal bridge1SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000422HP:0000431Wide nasal bridge1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000422HP:0000431Wide nasal bridge1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000422HP:0000431Wide nasal bridge1SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0000422HP:0005280Depressed nasal bridge1SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic.
HP:0000422HP:0033142Long nasal bridge1SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic.
HP:0000422HP:0000431Wide nasal bridge1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000422HP:0005280Depressed nasal bridge1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000422HP:0005280Depressed nasal bridge1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000422HP:0000431Wide nasal bridge1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040282 - Frequent43
HP:0000422HP:0005280Depressed nasal bridge1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000422HP:0000431Wide nasal bridge1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000422HP:0000426Prominent nasal bridge1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000422HP:0000426Prominent nasal bridge1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0000422HP:0000426Prominent nasal bridge1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0000422HP:0000431Wide nasal bridge1SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0000422HP:0005280Depressed nasal bridge1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000422HP:0000431Wide nasal bridge1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0000422HP:0000431Wide nasal bridge1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000422HP:0005280Depressed nasal bridge1SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0000422HP:0000446Narrow nasal bridge1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent67
HP:0000422HP:0000431Wide nasal bridge1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0000422HP:0005280Depressed nasal bridge1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0000422HP:0005280Depressed nasal bridge1SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0000422HP:0005280Depressed nasal bridge1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0000422HP:0005280Depressed nasal bridge1SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0000422HP:0000446Narrow nasal bridge1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0000422HP:0000426Prominent nasal bridge1SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000422HP:0005280Depressed nasal bridge1SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000422HP:0000426Prominent nasal bridge1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000422HP:0005280Depressed nasal bridge1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000422HP:0000431Wide nasal bridge1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000422HP:0005280Depressed nasal bridge1SIX2 CL E G H1073610888ORPHA:488437SIX2-related frontonasal dysplasiaHP:0040281 - Very frequent2
HP:0000422HP:0000446Narrow nasal bridge1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0000422HP:0000431Wide nasal bridge1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0000422HP:0005280Depressed nasal bridge1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0000422HP:0000431Wide nasal bridge1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0000422HP:0005280Depressed nasal bridge1SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0000422HP:0000431Wide nasal bridge1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000422HP:0005280Depressed nasal bridge1SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent2
HP:0000422HP:0000431Wide nasal bridge1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000422HP:0005280Depressed nasal bridge1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000422HP:0005280Depressed nasal bridge1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0000422HP:0005280Depressed nasal bridge1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000422HP:0005280Depressed nasal bridge1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0000422HP:0005280Depressed nasal bridge1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0000422HP:0000431Wide nasal bridge1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0000422HP:0000431Wide nasal bridge1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000422HP:0000431Wide nasal bridge1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000422HP:0005280Depressed nasal bridge1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000422HP:0005280Depressed nasal bridge1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000422HP:0005280Depressed nasal bridge1SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0000422HP:0005280Depressed nasal bridge1SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0000422HP:0005280Depressed nasal bridge1SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0000422HP:0000431Wide nasal bridge1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0000422HP:0005280Depressed nasal bridge1SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0000422HP:0000431Wide nasal bridge1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000422HP:0000426Prominent nasal bridge1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0000422HP:0000431Wide nasal bridge1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000422HP:0000446Narrow nasal bridge1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000422HP:0000446Narrow nasal bridge1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0000422HP:0005280Depressed nasal bridge1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0000422HP:0005280Depressed nasal bridge1SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0000422HP:0005280Depressed nasal bridge1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000422HP:0000431Wide nasal bridge1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000422HP:0005280Depressed nasal bridge1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0000422HP:0005280Depressed nasal bridge1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0000422HP:0005280Depressed nasal bridge1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0000422HP:0005280Depressed nasal bridge1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0000422HP:0005280Depressed nasal bridge1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000422HP:0005280Depressed nasal bridge1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0000422HP:0005280Depressed nasal bridge1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000422HP:0005280Depressed nasal bridge1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000422HP:0000426Prominent nasal bridge1SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000422HP:0005280Depressed nasal bridge1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000422HP:0005280Depressed nasal bridge1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000422HP:0000426Prominent nasal bridge1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000422HP:0000431Wide nasal bridge1SMG9 CL E G H5600625763OMIM:6199952
HP:0000422HP:0005280Depressed nasal bridge1SMG9 CL E G H5600625763OMIM:6199952
HP:0000422HP:0005280Depressed nasal bridge1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000422HP:0000431Wide nasal bridge1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000422HP:0005280Depressed nasal bridge1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0000422HP:0005280Depressed nasal bridge1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0000422HP:0005280Depressed nasal bridge1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0000422HP:0005280Depressed nasal bridge1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000422HP:0000426Prominent nasal bridge1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000422HP:0000426Prominent nasal bridge1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000422HP:0000431Wide nasal bridge1SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0000422HP:0000426Prominent nasal bridge1SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0000422HP:0005280Depressed nasal bridge1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000422HP:0000431Wide nasal bridge1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000422HP:0000446Narrow nasal bridge1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000446Narrow nasal bridge1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000422HP:0000431Wide nasal bridge1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000422HP:0000446Narrow nasal bridge1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000422HP:0005280Depressed nasal bridge1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000422HP:0000431Wide nasal bridge1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000422HP:0005280Depressed nasal bridge1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000422HP:0000431Wide nasal bridge1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000422HP:0000431Wide nasal bridge1SON CL E G H665111183OMIM:617140Zttk syndrome.12
HP:0000422HP:0005280Depressed nasal bridge1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000422HP:0005280Depressed nasal bridge1SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000422HP:0000431Wide nasal bridge1SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasiaHP:0040281 - Very frequent26
HP:0000422HP:0005280Depressed nasal bridge1SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasiaHP:0040281 - Very frequent26
HP:0000422HP:0005280Depressed nasal bridge1SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000422HP:0000431Wide nasal bridge1SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000422HP:0000431Wide nasal bridge1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000422HP:0005280Depressed nasal bridge1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000422HP:0000431Wide nasal bridge1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040282 - Frequent61
HP:0000422HP:0000426Prominent nasal bridge1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040282 - Frequent61
HP:0000422HP:0000431Wide nasal bridge1SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent61
HP:0000422HP:0000426Prominent nasal bridge1SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent61
HP:0000422HP:0005280Depressed nasal bridge1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0000422HP:0005280Depressed nasal bridge1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0000422HP:0000426Prominent nasal bridge1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000422HP:0000431Wide nasal bridge1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000422HP:0005280Depressed nasal bridge1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000422HP:0005280Depressed nasal bridge1SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0000422HP:0000431Wide nasal bridge1SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0000422HP:0000431Wide nasal bridge1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000422HP:0005280Depressed nasal bridge1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000422HP:0005280Depressed nasal bridge1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040283 - Occasional109
HP:0000422HP:0005280Depressed nasal bridge1SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000422HP:0005280Depressed nasal bridge1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0000422HP:0005280Depressed nasal bridge1SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000422HP:0000431Wide nasal bridge1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000422HP:0005280Depressed nasal bridge1SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000422HP:0000431Wide nasal bridge1SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000422HP:0000426Prominent nasal bridge1SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040281 - Very frequent6
HP:0000422HP:0000431Wide nasal bridge1SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0000422HP:0005280Depressed nasal bridge1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0000422HP:0000431Wide nasal bridge1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0000422HP:0000431Wide nasal bridge1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000422HP:0005280Depressed nasal bridge1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000422HP:0000426Prominent nasal bridge1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000422HP:0000426Prominent nasal bridge1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000422HP:0005280Depressed nasal bridge1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000422HP:0000426Prominent nasal bridge1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000422HP:0005280Depressed nasal bridge1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000422HP:0000426Prominent nasal bridge1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000422HP:0000426Prominent nasal bridge1SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0000422HP:0005280Depressed nasal bridge1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional5
HP:0000422HP:0000431Wide nasal bridge1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000422HP:0000431Wide nasal bridge1SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000422HP:0000426Prominent nasal bridge1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000422HP:0000446Narrow nasal bridge1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000422HP:0005280Depressed nasal bridge1SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000422HP:0000431Wide nasal bridge1SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0000422HP:0000426Prominent nasal bridge1STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0000422HP:0000426Prominent nasal bridge1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040282 - Frequent9
HP:0000422HP:0005280Depressed nasal bridge1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000422HP:0000431Wide nasal bridge1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000422HP:0000431Wide nasal bridge1STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0000422HP:0000431Wide nasal bridge1STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0000422HP:0000431Wide nasal bridge1STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000422HP:0000431Wide nasal bridge1STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000422HP:0005280Depressed nasal bridge1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent86
HP:0000422HP:0000431Wide nasal bridge1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0000422HP:0000431Wide nasal bridge1SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040282 - Frequent124
HP:0000422HP:0000426Prominent nasal bridge1SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0000422HP:0005280Depressed nasal bridge1SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0000422HP:0000446Narrow nasal bridge1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent124
HP:0000422HP:0005280Depressed nasal bridge1SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040282 - Frequent80
HP:0000422HP:0000431Wide nasal bridge1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000422HP:0000431Wide nasal bridge1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000422HP:0005280Depressed nasal bridge1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000422HP:0000431Wide nasal bridge1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0000422HP:0005280Depressed nasal bridge1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional6
HP:0000422HP:0005280Depressed nasal bridge1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional34
HP:0000422HP:0005280Depressed nasal bridge1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0000422HP:0000426Prominent nasal bridge1TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000422HP:0005280Depressed nasal bridge1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0000422HP:0005280Depressed nasal bridge1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000422HP:0000431Wide nasal bridge1TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000422HP:0000431Wide nasal bridge1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000422HP:0000431Wide nasal bridge1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0000422HP:0000426Prominent nasal bridge1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000422HP:0000431Wide nasal bridge1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000422HP:0000431Wide nasal bridge1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0000422HP:0005280Depressed nasal bridge1TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000422HP:0005280Depressed nasal bridge1TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0000422HP:0000426Prominent nasal bridge1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000422HP:0000431Wide nasal bridge1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000422HP:0000431Wide nasal bridge1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent32
HP:0000422HP:0000431Wide nasal bridge1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent32
HP:0000422HP:0005280Depressed nasal bridge1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000422HP:0005280Depressed nasal bridge1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0000422HP:0000431Wide nasal bridge1TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosisHP:0040282 - Frequent19
HP:0000422HP:0005280Depressed nasal bridge1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000422HP:0005280Depressed nasal bridge1TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0000422HP:0000426Prominent nasal bridge1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000422HP:0000431Wide nasal bridge1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000422HP:0000431Wide nasal bridge1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent140
HP:0000422HP:0000426Prominent nasal bridge1TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0000422HP:0000426Prominent nasal bridge1TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0000422HP:0000426Prominent nasal bridge1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0000422HP:0000446Narrow nasal bridge1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent1
HP:0000422HP:0000431Wide nasal bridge1TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII.
HP:0000422HP:0000431Wide nasal bridge1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040282 - Frequent12
HP:0000422HP:0005280Depressed nasal bridge1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000422HP:0005280Depressed nasal bridge1TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0000422HP:0005280Depressed nasal bridge1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000422HP:0005280Depressed nasal bridge1TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0000422HP:0000426Prominent nasal bridge1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000422HP:0005280Depressed nasal bridge1TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0000422HP:0000446Narrow nasal bridge1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0000422HP:0000426Prominent nasal bridge1TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000422HP:0000431Wide nasal bridge1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000422HP:0005280Depressed nasal bridge1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0000422HP:0000426Prominent nasal bridge1TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional39
HP:0000422HP:0005280Depressed nasal bridge1TMEM147 CL E G H1043030414OMIM:620075
HP:0000422HP:0005280Depressed nasal bridge1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000422HP:0000426Prominent nasal bridge1TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional45
HP:0000422HP:0000426Prominent nasal bridge1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0000422HP:0000426Prominent nasal bridge1TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000422HP:0000426Prominent nasal bridge1TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional33
HP:0000422HP:0000426Prominent nasal bridge1TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0000422HP:0000426Prominent nasal bridge1TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000422HP:0000426Prominent nasal bridge1TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional82
HP:0000422HP:0000426Prominent nasal bridge1TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0000422HP:0000431Wide nasal bridge1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0000431Wide nasal bridge1TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000422HP:0000426Prominent nasal bridge1TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0000422HP:0000426Prominent nasal bridge1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0000422HP:0000431Wide nasal bridge1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000422HP:0005280Depressed nasal bridge1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000422HP:0000431Wide nasal bridge1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000422HP:0000431Wide nasal bridge1TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0000422HP:0000431Wide nasal bridge1TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0000422HP:0000431Wide nasal bridge1TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0000422HP:0000431Wide nasal bridge1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000422HP:0000426Prominent nasal bridge1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000422HP:0000431Wide nasal bridge1TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0000422HP:0005280Depressed nasal bridge1TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional6
HP:0000422HP:0000431Wide nasal bridge1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000422HP:0000426Prominent nasal bridge1TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000422HP:0000431Wide nasal bridge1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000422HP:0005280Depressed nasal bridge1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0000422HP:0000426Prominent nasal bridge1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0000422HP:0000431Wide nasal bridge1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0000422HP:0000431Wide nasal bridge1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000422HP:0000431Wide nasal bridge1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040283 - Occasional140
HP:0000422HP:0000426Prominent nasal bridge1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040283 - Occasional140
HP:0000422HP:0000431Wide nasal bridge1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000422HP:0005280Depressed nasal bridge1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000422HP:0033142Long nasal bridge1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0000422HP:0000431Wide nasal bridge1TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0000422HP:0005280Depressed nasal bridge1TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0000422HP:0000431Wide nasal bridge1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000422HP:0000431Wide nasal bridge1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13HP:0040283 - Occasional158
HP:0000422HP:0000426Prominent nasal bridge1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional108
HP:0000422HP:0005280Depressed nasal bridge1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000422HP:0000431Wide nasal bridge1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0000422HP:0000431Wide nasal bridge1TRIM37 CL E G H45917523ORPHA:2576Mulibrey nanismHP:0040282 - Frequent78
HP:0000422HP:0005280Depressed nasal bridge1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1
HP:0000422HP:0000426Prominent nasal bridge1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000422HP:0000431Wide nasal bridge1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000422HP:0005280Depressed nasal bridge1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000422HP:0005281Hypoplastic nasal bridge1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0000422HP:0005280Depressed nasal bridge1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0000422HP:0005280Depressed nasal bridge1TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040283 - Occasional133
HP:0000422HP:0005280Depressed nasal bridge1TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000422HP:0000431Wide nasal bridge1TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0000422HP:0000431Wide nasal bridge1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional171
HP:0000422HP:0005280Depressed nasal bridge1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0000422HP:0005280Depressed nasal bridge1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0000422HP:0005280Depressed nasal bridge1TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214
HP:0000422HP:0000431Wide nasal bridge1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000422HP:0000426Prominent nasal bridge1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000422HP:0005280Depressed nasal bridge1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000422HP:0005280Depressed nasal bridge1TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0000422HP:0005280Depressed nasal bridge1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0000422HP:0000431Wide nasal bridge1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0005280Depressed nasal bridge1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000422HP:0005280Depressed nasal bridge1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000422HP:0000426Prominent nasal bridge1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional41
HP:0000422HP:0000431Wide nasal bridge1TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0000422HP:0000431Wide nasal bridge1TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000422HP:0005280Depressed nasal bridge1TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent106
HP:0000422HP:0005280Depressed nasal bridge1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0000422HP:0000431Wide nasal bridge1TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent14
HP:0000422HP:0000431Wide nasal bridge1TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent61
HP:0000422HP:0000431Wide nasal bridge1TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0000422HP:0000426Prominent nasal bridge1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0000422HP:0005280Depressed nasal bridge1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0000422HP:0000431Wide nasal bridge1TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0000422HP:0005280Depressed nasal bridge1TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040283 - Occasional7
HP:0000422HP:0000431Wide nasal bridge1TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000422HP:0005280Depressed nasal bridge1TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0000422HP:0000431Wide nasal bridge1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040282 - Frequent7
HP:0000422HP:0000426Prominent nasal bridge1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000422HP:0000426Prominent nasal bridge1TXNL4A CL E G H1090730551ORPHA:1200Burn-McKeown syndromeHP:0040282 - Frequent19
HP:0000422HP:0000431Wide nasal bridge1TXNL4A CL E G H1090730551ORPHA:1200Burn-McKeown syndromeHP:0040283 - Occasional19
HP:0000422HP:0005280Depressed nasal bridge1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000422HP:0005280Depressed nasal bridge1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000422HP:0005280Depressed nasal bridge1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000422HP:0000431Wide nasal bridge1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000422HP:0000431Wide nasal bridge1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0000426Prominent nasal bridge1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000422HP:0000431Wide nasal bridge1UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduriaHP:0040282 - Frequent135
HP:0000422HP:0000426Prominent nasal bridge1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0000422HP:0000426Prominent nasal bridge1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0000422HP:0000431Wide nasal bridge1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0000422HP:0000426Prominent nasal bridge1UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent33
HP:0000422HP:0000426Prominent nasal bridge1UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000422HP:0005280Depressed nasal bridge1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000422HP:0005280Depressed nasal bridge1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000422HP:0000431Wide nasal bridge1USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0000422HP:0000431Wide nasal bridge1USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000422HP:0005280Depressed nasal bridge1USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000422HP:0000431Wide nasal bridge1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000422HP:0005280Depressed nasal bridge1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000422HP:0005280Depressed nasal bridge1VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040283 - Occasional2
HP:0000422HP:0005280Depressed nasal bridge1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0000422HP:0000431Wide nasal bridge1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0000422HP:0000426Prominent nasal bridge1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000422HP:0000426Prominent nasal bridge1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000422HP:0000431Wide nasal bridge1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000422HP:0000431Wide nasal bridge1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000422HP:0005280Depressed nasal bridge1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000422HP:0005280Depressed nasal bridge1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000422HP:0000431Wide nasal bridge1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000422HP:0005280Depressed nasal bridge1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000422HP:0000431Wide nasal bridge1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000422HP:0000431Wide nasal bridge1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040281 - Very frequent83
HP:0000422HP:0005280Depressed nasal bridge1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040282 - Frequent83
HP:0000422HP:0005280Depressed nasal bridge1WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0000422HP:0000426Prominent nasal bridge1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional60
HP:0000422HP:0005280Depressed nasal bridge1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional10
HP:0000422HP:0000431Wide nasal bridge1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0000422HP:0005280Depressed nasal bridge1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0000422HP:0005280Depressed nasal bridge1WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000422HP:0005280Depressed nasal bridge1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000422HP:0000431Wide nasal bridge1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000422HP:0005280Depressed nasal bridge1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0000422HP:0000426Prominent nasal bridge1WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000422HP:0005280Depressed nasal bridge1WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0000422HP:0000431Wide nasal bridge1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000422HP:0005280Depressed nasal bridge1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000422HP:0000431Wide nasal bridge1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent98
HP:0000422HP:0005280Depressed nasal bridge1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000422HP:0000431Wide nasal bridge1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000422HP:0000431Wide nasal bridge1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0000422HP:0000431Wide nasal bridge1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0000422HP:0000426Prominent nasal bridge1XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0000422HP:0005280Depressed nasal bridge1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000422HP:0005280Depressed nasal bridge1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0000422HP:0000431Wide nasal bridge1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000422HP:0005280Depressed nasal bridge1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000422HP:0005280Depressed nasal bridge1ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0000422HP:0005280Depressed nasal bridge1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000422HP:0005280Depressed nasal bridge1ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040282 - Frequent9
HP:0000422HP:0005280Depressed nasal bridge1ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0000422HP:0000426Prominent nasal bridge1ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent10
HP:0000422HP:0000431Wide nasal bridge1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000422HP:0000431Wide nasal bridge1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000422HP:0000431Wide nasal bridge1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000422HP:0005280Depressed nasal bridge1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000422HP:0000446Narrow nasal bridge1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent34
HP:0000422HP:0000426Prominent nasal bridge1ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000422HP:0000431Wide nasal bridge1ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000422HP:0005280Depressed nasal bridge1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0000422HP:0000431Wide nasal bridge1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000422HP:0005280Depressed nasal bridge1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000422HP:0000426Prominent nasal bridge1ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0000422HP:0000431Wide nasal bridge1ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000422HP:0000426Prominent nasal bridge1ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional49
HP:0000422HP:0000431Wide nasal bridge1ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0000422HP:0000426Prominent nasal bridge1ZNF526 CL E G H11611529415OMIM:61987724
HP:0000422HP:0000426Prominent nasal bridge1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000422HP:0000431Wide nasal bridge1ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0000422HP:0005280Depressed nasal bridge1ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (1040) :ABCA4 ABCC9 ACAN ACOX1 ACSL4 ACTB ACTG1 ACTG2 ACY1 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAT3 ADGRG6 ADNP AFF2 AGA AGBL5 AGL AGO2 AHDC1 AHI1 AHR AIFM1 AKT1 AKT3 ALDH6A1 ALG12 ALG2 ALG3 ALG9 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANK1 ANKH ANKRD11 ANTXR1 AP2M1 AP3B1 AP4B1 AP4E1 AP4S1 APC2 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSB ARSK ARSL ARVCF ARX ASH1L ASPH ASXL1 ASXL3 ATAD3A ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATPAF2 ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL7B BCOR BCR BEST1 BICRA BLTP1 BMP2 BMPER BMPR1A BMPR1B BPNT2 BPTF BRAF BRCA1 BRD4 BRF1 BRPF1 BUB1B BUD23 CA4 CACNA1C CAMKMT CANT1 CASK CASZ1 CBL CBY1 CC2D2A CCBE1 CCDC22 CCND2 CCNK CCNQ CD96 CDC42 CDC42BPB CDCA7 CDH11 CDH2 CDHR1 CDK10 CDK13 CDKL5 CDKN1C CDON CENPF CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP57 CERKL CFAP418 CHD2 CHD3 CHD5 CHD7 CHD8 CHN1 CHST3 CILK1 CKAP2L CLIC2 CLIP2 CLP1 CLRN1 CNGA1 CNGB1 CNOT1 COG1 COG4 COG5 COG8 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL27A1 COL2A1 COL3A1 COL9A3 COLEC11 COMT COX4I1 COX7B CPLANE1 CPLX1 CRB1 CREBBP CRIPT CRKL CRLF1 CRX CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTNND2 CTSD CTU2 CUL4B CUL7 DCAF17 DCHS1 DDB1 DDR2 DDX3X DEAF1 DHCR24 DHCR7 DHDDS DHPS DHX38 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DMXL2 DNAJC30 DNMT3B DOCK6 DOCK7 DOK7 DPF2 DPH1 DPH5 DPM1 DPYD DPYSL5 DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP ECE1 EDA EDAR EDARADD EDEM3 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFNB1 EIF2AK3 EIF4H ELN EP300 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERF ESCO2 ETFA ETFB ETFDH EXOC2 EXOSC1 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FAM149B1 FAM161A FAM20C FANCL FAR1 FAT4 FBN1 FBXL3 FBXO28 FBXO31 FDFT1 FGD1 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FKBP6 FLI1 FLII FLNA FLNB FOCAD FOXC1 FOXG1 FOXH1 FOXL2 FRAS1 FREM1 FREM2 FRMPD4 FSCN2 FTSJ1 FUT8 FZD2 G6PC3 GABRD GAD1 GALNT2 GAS1 GATA1 GATA4 GATAD2B GBA1 GDF5 GHR GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLIS3 GLUL GMNN GNAO1 GNAS GNB2 GNE GNPAT GNPTAB GNRH1 GNRHR GNS GP1BB GPC3 GPC4 GPC6 GPRASP2 GPX4 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B H3-3A H4C11 H4C5 H4C9 HBA1 HBA2 HBB HCCS HDAC4 HDAC8 HECW2 HELLS HERC1 HERC2 HES7 HESX1 HGSNAT HIRA HIVEP2 HMGA2 HNRNPK HNRNPR HOXB1 HRAS HS2ST1 HS6ST1 HSD17B4 HSPG2 HUWE1 HYAL1 HYLS1 HYOU1 IARS2 IDH3A IDH3B IDS IDUA IFT122 IFT140 IFT172 IFT27 IFT52 IFT57 IFT74 IFT80 IFT81 IFT88 IGBP1 IGF1R IL11RA IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR INTS1 INTU IPO8 IPW IQSEC2 IRX5 IYD JAG1 JMJD1C KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNN3 KCTD1 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF7 KIFBP KISS1 KISS1R KIT KIZ KLHL7 KMT2A KMT2D KMT5B KNSTRN KPTN KRAS KREMEN1 KYNU LAMA5 LARP7 LBR LEMD3 LETM1 LFNG LHX3 LHX4 LIG4 LIMK1 LINS1 LMNA LMNB1 LONP1 LRAT LRP2 LRPPRC LTBP1 LTBP3 LTBP4 LUZP1 LZTFL1 MACF1 MADD MAF MAFB MAGEL2 MAK MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MDH1 MDM2 MECP2 MED12 MED12L MED13 MED13L MED27 MEF2C MEG3 MEGF8 MEIS2 MERTK MESP2 METTL23 METTL27 MGAT2 MGP MIA3 MID1 MINPP1 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP2 MMP23B MN1 MRAS MRPS14 MTHFR MTOR MTX2 MUSK MYCN MYH3 MYMK MYOD1 MYRF MYT1L NAA10 NAGA NALCN NBN NCF1 NDE1 NDP NDUFB11 NECTIN1 NEK1 NEK2 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFASC NFIB NFIX NHS NIPBL NMNAT1 NODAL NOG NONO NOTCH2 NOTCH3 NPAP1 NPHP1 NPR2 NR2E3 NR2F1 NRAS NRCAM NRL NSD1 NSD2 NSDHL NSMCE3 NSMF NSRP1 NSUN2 NUDT2 NUP188 NUP88 NXN OBSL1 OFD1 OPHN1 ORC6 OTUD6B P4HTM PACS2 PAH PAICS PAK2 PAK3 PAM16 PARS2 PAX1 PAX3 PBX1 PCARE PCDHGC4 PCLO PCNT PDE4D PDE6A PDE6B PDE6D PDE6G PDGFRB PDHA1 PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHF21A PIBF1 PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PKDCC PLCB3 PLK4 PLOD1 PLXNA1 PMM2 PNKP POGZ POLA1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POLRMT POMGNT1 POR PORCN POU1F1 PPM1B PPP1R21 PQBP1 PRCD PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCZ PRKD1 PRKDC PRKG2 PRMT7 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PSAT1 PSMC1 PSMD12 PTCH1 PTCH2 PTEN PTH1R PTPN11 PUF60 PUM1 PURA PUS7 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAF1 RAI1 RALA RALGAPA1 RAPSN RARB RARS2 RB1 RBL2 RBM10 RBP3 RDH12 RECQL4 REEP6 RELN RERE RFC2 RGR RHO RHOA RHOBTB2 RIN2 RIPK4 RIPPLY2 RLBP1 RLIM RMRP RNF13 RNF2 RNU4ATAC ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RSPRY1 RSRC1 RTL1 RTTN RUNX2 RYR1 SAG SALL4 SATB2 SC5D SCAPER SCARF2 SCN1A SCN1B SCN2A SCNM1 SCO2 SCUBE3 SCYL2 SDCCAG8 SEC23A SEC24C SEMA3E SEMA4A SEMA5A SEPTIN9 SET SETBP1 SETD5 SF3B4 SH2B1 SH3PXD2B SHANK3 SHH SHOX SHROOM4 SIK1 SIM1 SIN3A SIX2 SIX3 SKI SKIC2 SKIC3 SLC12A6 SLC18A3 SLC1A4 SLC25A22 SLC25A24 SLC26A2 SLC2A1 SLC35A2 SLC35C1 SLC39A13 SLC3A1 SLC45A1 SLC5A5 SLC6A1 SLC6A9 SLC7A14 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SMPD4 SMS SNAI2 SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX14 SON SOS1 SOST SOX10 SOX11 SOX18 SOX4 SOX5 SOX6 SOX9 SP7 SPATA5 SPATA5L1 SPATA7 SPECC1L SPEN SPOP SPRED2 SPRTN SPRY4 SPTBN1 SRCAP SRD5A3 STAG1 STAG2 STAT3 STRA6 STRADA STT3A STX16 STX1A SUFU SUMF1 SUPT16H SVBP SYNE1 SYNGAP1 TAC3 TACR3 TAF1 TAF6 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL2 TBX1 TBX2 TBX4 TBX6 TCF20 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENT5A TFAP2A TFAP2B TFE3 TG TGFB3 TGIF1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM70 TMEM94 TNNI2 TNNT3 TNPO2 TOE1 TOGARAM1 TONSL TOPORS TOR1A TP63 TPM2 TPO TRAPPC9 TRIM32 TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRMT1 TRPS1 TRPV4 TRRAP TSHB TSR2 TTC26 TTC8 TUB TUBA1A TUBB TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNL4A UBE2A UBE3B UBE4B UFD1 UGP2 UMPS UNC80 UPF3B UQCC2 USB1 USH2A USP9X VANGL2 VARS1 VDR VPS13B VPS33A VPS37D WAC WARS2 WASHC5 WDPCP WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WLS WNT5A WNT7A XRCC4 XYLT1 YARS1 ZBTB18 ZBTB24 ZDHHC9 ZEB2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF292 ZNF335 ZNF408 ZNF423 ZNF513 ZNF526 ZNF699 ZSWIM6

Diseases (1019) :ORPHA:791 OMIM:239850 ORPHA:1517 OMIM:165800 OMIM:612813 ORPHA:171866 OMIM:264470 ORPHA:2971 ORPHA:86818 ORPHA:2995 OMIM:243310 ORPHA:2604 OMIM:609924 ORPHA:124 OMIM:277600 ORPHA:1901 ORPHA:2136 ORPHA:521445 ORPHA:363528 OMIM:615286 OMIM:616503 ORPHA:404448 OMIM:615873 ORPHA:100973 OMIM:309548 OMIM:208400 ORPHA:93 OMIM:232400 OMIM:619149 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:83629 OMIM:300232 ORPHA:744 OMIM:176920 ORPHA:83473 OMIM:614105 ORPHA:79324 ORPHA:79326 OMIM:607906 OMIM:601110 ORPHA:79328 OMIM:608776 OMIM:613456 ORPHA:306542 OMIM:136760 OMIM:613451 ORPHA:228390 OMIM:609597 ORPHA:52022 OMIM:300373 ORPHA:2780 OMIM:300990 ORPHA:251066 ORPHA:1522 ORPHA:2332 OMIM:148050 OMIM:230740 ORPHA:2067 ORPHA:1942 OMIM:608233 OMIM:614066 OMIM:613744 OMIM:614067 OMIM:617169 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:618161 ORPHA:110 OMIM:253200 OMIM:619698 OMIM:302950 ORPHA:567 ORPHA:1934 OMIM:300215 OMIM:617796 OMIM:601552 OMIM:605039 ORPHA:97297 ORPHA:352577 OMIM:615485 OMIM:618810 OMIM:608688 OMIM:278250 OMIM:617403 ORPHA:79500 OMIM:604273 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:615834 ORPHA:536467 OMIM:245600 ORPHA:709 ORPHA:79332 ORPHA:75496 OMIM:130070 ORPHA:904 OMIM:615984 OMIM:619641 OMIM:300166 ORPHA:2712 ORPHA:261330 OMIM:619325 OMIM:617822 ORPHA:261295 OMIM:608022 ORPHA:79076 ORPHA:2639 OMIM:614078 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:613706 ORPHA:500 OMIM:617883 ORPHA:199 ORPHA:444072 OMIM:617333 OMIM:257300 OMIM:620029 OMIM:601005 ORPHA:163693 OMIM:251450 ORPHA:1425 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:613563 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:7 OMIM:618147 ORPHA:140952 OMIM:211750 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2268 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:618929 OMIM:617694 OMIM:617360 ORPHA:85173 OMIM:614732 ORPHA:280200 OMIM:243605 OMIM:613823 OMIM:614114 OMIM:618205 OMIM:619873 ORPHA:138 ORPHA:432 OMIM:615032 ORPHA:233 OMIM:612651 ORPHA:3255 OMIM:272440 ORPHA:324410 ORPHA:411493 OMIM:615803 OMIM:618500 ORPHA:263508 OMIM:611209 ORPHA:85172 OMIM:618150 ORPHA:263487 OMIM:611182 ORPHA:2021 OMIM:228520 ORPHA:560 OMIM:154780 OMIM:604841 ORPHA:1427 OMIM:215150 OMIM:184840 ORPHA:1571 OMIM:267750 ORPHA:1899 OMIM:615155 OMIM:156550 ORPHA:485 ORPHA:85166 OMIM:151210 OMIM:108300 ORPHA:286 OMIM:620022 OMIM:265050 OMIM:619060 ORPHA:2556 ORPHA:2754 OMIM:194190 ORPHA:280 OMIM:618332 OMIM:180849 OMIM:615789 OMIM:272430 OMIM:618870 OMIM:617062 ORPHA:397715 ORPHA:281 OMIM:610127 OMIM:618142 OMIM:300354 OMIM:273750 OMIM:241080 ORPHA:314679 OMIM:601390 OMIM:619426 OMIM:271665 OMIM:300958 ORPHA:819 ORPHA:35107 OMIM:602398 ORPHA:818 OMIM:270400 OMIM:618480 OMIM:618272 ORPHA:2849 OMIM:267000 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:2311 OMIM:242860 OMIM:614219 ORPHA:411986 ORPHA:994 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620070 OMIM:608799 ORPHA:79322 ORPHA:1675 OMIM:619435 ORPHA:95716 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 OMIM:615503 OMIM:617088 ORPHA:268261 ORPHA:464311 OMIM:617330 ORPHA:401973 OMIM:300960 ORPHA:35173 OMIM:613870 OMIM:305100 OMIM:224900 OMIM:614941 OMIM:619493 ORPHA:897 OMIM:616367 OMIM:617561 OMIM:616393 OMIM:614437 ORPHA:1520 OMIM:304110 OMIM:226980 OMIM:194050 OMIM:618333 OMIM:242840 OMIM:610758 ORPHA:1466 OMIM:214150 OMIM:133540 OMIM:617180 OMIM:600775 OMIM:268300 OMIM:231680 OMIM:619306 OMIM:619304 OMIM:619576 ORPHA:502 OMIM:617425 ORPHA:508533 ORPHA:2792 OMIM:277590 OMIM:259775 OMIM:614083 ORPHA:438178 OMIM:616006 OMIM:615546 OMIM:616914 ORPHA:284979 OMIM:608328 OMIM:606220 OMIM:619777 OMIM:615979 OMIM:618156 OMIM:305400 ORPHA:915 ORPHA:90024 ORPHA:2117 ORPHA:3366 OMIM:166250 OMIM:101600 ORPHA:93258 OMIM:190440 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123790 ORPHA:1555 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:100800 ORPHA:15 OMIM:616482 ORPHA:1860 ORPHA:93274 OMIM:606812 ORPHA:2308 ORPHA:1826 OMIM:305620 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:112310 ORPHA:503 OMIM:150250 OMIM:619991 ORPHA:782 ORPHA:261144 OMIM:613454 OMIM:110100 ORPHA:572333 OMIM:219000 ORPHA:2052 OMIM:300983 OMIM:309549 OMIM:618005 ORPHA:93328 OMIM:164745 OMIM:612541 OMIM:619124 OMIM:618885 ORPHA:251071 OMIM:615074 ORPHA:363686 ORPHA:85212 OMIM:608013 ORPHA:633 OMIM:218400 OMIM:164200 ORPHA:2710 OMIM:612474 ORPHA:79255 OMIM:610829 ORPHA:380 OMIM:175700 OMIM:146510 OMIM:610199 OMIM:610015 OMIM:616835 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:222765 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:373 OMIM:312870 ORPHA:2662 ORPHA:93329 OMIM:258315 OMIM:301018 OMIM:250220 OMIM:617988 OMIM:619720 OMIM:619759 OMIM:619950 OMIM:619951 ORPHA:98791 ORPHA:231214 ORPHA:231226 ORPHA:1001 OMIM:600430 OMIM:300882 OMIM:617268 OMIM:616911 OMIM:617011 ORPHA:457359 OMIM:176270 ORPHA:226307 OMIM:616977 ORPHA:94063 ORPHA:352665 ORPHA:453504 OMIM:620073 OMIM:614744 ORPHA:3071 OMIM:218040 OMIM:619194 OMIM:261515 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:309590 OMIM:601492 OMIM:233600 OMIM:616007 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:607014 OMIM:607015 OMIM:607016 OMIM:218330 OMIM:266920 OMIM:617102 OMIM:617927 OMIM:619582 OMIM:617895 ORPHA:52055 OMIM:300472 ORPHA:73273 OMIM:270450 OMIM:614188 OMIM:619750 ORPHA:2746 OMIM:258480 ORPHA:769 OMIM:618571 OMIM:617925 OMIM:619472 OMIM:611174 OMIM:118450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:85201 OMIM:606170 OMIM:603736 OMIM:618974 ORPHA:89844 ORPHA:420561 OMIM:611816 OMIM:135500 ORPHA:37553 ORPHA:435628 ORPHA:166108 OMIM:618729 OMIM:618658 OMIM:181270 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:147920 OMIM:618505 OMIM:616546 OMIM:617127 OMIM:619479 OMIM:152950 ORPHA:2526 OMIM:616258 OMIM:200990 OMIM:607131 ORPHA:166024 ORPHA:66629 OMIM:609460 ORPHA:2884 OMIM:617055 ORPHA:319182 OMIM:605130 OMIM:617788 ORPHA:221139 OMIM:613328 ORPHA:397612 OMIM:609942 OMIM:600268 OMIM:617392 OMIM:617661 OMIM:620076 OMIM:615071 OMIM:215140 OMIM:169400 OMIM:618019 ORPHA:235 ORPHA:99812 OMIM:614340 ORPHA:2229 OMIM:619179 ORPHA:1458 OMIM:600373 ORPHA:2143 OMIM:222448 OMIM:220111 OMIM:619451 OMIM:617809 OMIM:613177 OMIM:618325 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:2774 ORPHA:398069 ORPHA:397941 OMIM:614202 ORPHA:309282 OMIM:157800 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:616734 OMIM:616430 OMIM:618959 OMIM:618681 OMIM:300260 OMIM:309520 ORPHA:776 OMIM:300895 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:616789 OMIM:619286 OMIM:613443 OMIM:614976 ORPHA:261190 OMIM:615942 OMIM:212066 OMIM:245150 ORPHA:85202 OMIM:619269 ORPHA:2745 OMIM:300000 ORPHA:284339 OMIM:193510 OMIM:617121 OMIM:259600 OMIM:618774 OMIM:618499 OMIM:618378 ORPHA:563612 ORPHA:457485 OMIM:616638 OMIM:619127 OMIM:164280 OMIM:193700 OMIM:178110 ORPHA:2053 ORPHA:1147 OMIM:254940 OMIM:618280 OMIM:616521 OMIM:300855 ORPHA:79280 OMIM:609242 OMIM:616266 ORPHA:371364 ORPHA:647 OMIM:614019 OMIM:605013 ORPHA:649 ORPHA:3253 ORPHA:2751 OMIM:618853 ORPHA:812 OMIM:300912 ORPHA:97685 OMIM:601321 OMIM:618356 OMIM:618286 ORPHA:420179 OMIM:602535 OMIM:302350 ORPHA:627 OMIM:122470 OMIM:619260 OMIM:186500 ORPHA:466791 OMIM:300967 ORPHA:955 OMIM:130720 ORPHA:220497 ORPHA:40 OMIM:615722 ORPHA:401777 OMIM:613224 OMIM:619833 OMIM:117550 OMIM:619695 ORPHA:251383 OMIM:300831 OMIM:308050 OMIM:617241 OMIM:620001 OMIM:611091 OMIM:619844 OMIM:618804 ORPHA:1507 OMIM:618529 OMIM:612921 OMIM:300804 OMIM:311200 ORPHA:2750 ORPHA:137831 OMIM:613803 ORPHA:505237 OMIM:617452 OMIM:618493 OMIM:618067 ORPHA:2209 OMIM:619859 OMIM:300558 OMIM:613320 OMIM:618437 OMIM:615560 ORPHA:1529 ORPHA:894 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:617641 OMIM:619880 OMIM:608027 ORPHA:2637 OMIM:210720 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:616592 OMIM:601812 OMIM:312170 OMIM:170100 ORPHA:742 ORPHA:44 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614859 OMIM:614883 OMIM:614887 OMIM:614886 OMIM:202370 OMIM:614862 OMIM:215100 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:615716 OMIM:617146 OMIM:300868 OMIM:618580 ORPHA:488635 OMIM:280000 ORPHA:2059 OMIM:614080 OMIM:614749 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:616025 OMIM:616809 ORPHA:557003 OMIM:618440 OMIM:602501 ORPHA:60040 OMIM:269880 ORPHA:3163 OMIM:119800 OMIM:180500 OMIM:618821 OMIM:618961 ORPHA:2518 OMIM:225400 OMIM:619955 OMIM:212065 ORPHA:79318 ORPHA:468678 OMIM:616364 OMIM:301030 ORPHA:1200 ORPHA:861 OMIM:264090 OMIM:619743 OMIM:253280 OMIM:201750 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:613038 OMIM:619383 ORPHA:93946 OMIM:309500 OMIM:620005 OMIM:101800 OMIM:619680 OMIM:617364 OMIM:615966 OMIM:619636 OMIM:617157 OMIM:300661 ORPHA:284417 OMIM:620071 OMIM:109400 ORPHA:377 OMIM:605309 ORPHA:50945 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:617931 OMIM:616158 ORPHA:438216 ORPHA:314655 OMIM:618342 ORPHA:2510 OMIM:201000 ORPHA:1387 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:618577 OMIM:614701 OMIM:611554 OMIM:611553 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:618388 OMIM:615524 OMIM:611523 ORPHA:1587 OMIM:619690 OMIM:311900 ORPHA:2886 ORPHA:1225 OMIM:218600 OMIM:268400 OMIM:257320 OMIM:618727 OMIM:618004 OMIM:613075 ORPHA:1401 OMIM:300978 ORPHA:175 OMIM:618379 ORPHA:544503 OMIM:619460 ORPHA:353298 OMIM:268310 OMIM:300998 OMIM:617412 ORPHA:192 OMIM:612563 ORPHA:457395 OMIM:616723 OMIM:618402 ORPHA:468631 ORPHA:1452 OMIM:119600 ORPHA:324581 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:607330 OMIM:600920 OMIM:620107 OMIM:604377 OMIM:619184 OMIM:618766 OMIM:607812 ORPHA:50814 OMIM:162100 OMIM:618106 OMIM:269150 ORPHA:404440 OMIM:615761 OMIM:154400 ORPHA:1788 ORPHA:261222 OMIM:249420 ORPHA:137834 ORPHA:48652 OMIM:606232 OMIM:142945 ORPHA:240 ORPHA:85288 ORPHA:171829 ORPHA:398079 ORPHA:94065 OMIM:613406 ORPHA:488437 ORPHA:84064 OMIM:614602 OMIM:218000 ORPHA:447997 OMIM:612289 OMIM:256050 ORPHA:628 OMIM:300896 ORPHA:99843 OMIM:612350 OMIM:617532 OMIM:617301 OMIM:139210 OMIM:619293 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:242900 ORPHA:1830 OMIM:614608 OMIM:618779 OMIM:616938 OMIM:300590 OMIM:610759 OMIM:619995 OMIM:616920 OMIM:241800 OMIM:206920 ORPHA:1106 OMIM:618622 OMIM:309583 ORPHA:3063 ORPHA:66631 OMIM:609528 ORPHA:177907 ORPHA:397709 ORPHA:500150 OMIM:617140 OMIM:610733 ORPHA:1513 OMIM:122860 OMIM:269500 ORPHA:163746 OMIM:615866 OMIM:137940 OMIM:616803 OMIM:618971 ORPHA:140 OMIM:114290 OMIM:613849 ORPHA:457351 OMIM:619616 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:618828 OMIM:618829 OMIM:619745 OMIM:616200 OMIM:619475 OMIM:619595 OMIM:136140 ORPHA:2044 OMIM:612379 OMIM:612713 OMIM:617635 ORPHA:502434 OMIM:301022 ORPHA:2314 OMIM:601186 OMIM:611087 OMIM:619714 OMIM:617757 ORPHA:585 OMIM:619480 OMIM:618569 ORPHA:319332 ORPHA:480907 OMIM:617126 OMIM:606003 OMIM:619575 OMIM:616897 OMIM:618950 OMIM:615663 OMIM:220500 OMIM:241410 ORPHA:2323 OMIM:616900 ORPHA:488632 OMIM:618223 ORPHA:261279 ORPHA:1797 OMIM:618430 OMIM:619824 OMIM:610954 ORPHA:2896 OMIM:617952 ORPHA:1297 OMIM:113620 ORPHA:46627 OMIM:301066 OMIM:615582 OMIM:142946 OMIM:618050 OMIM:213980 OMIM:617563 OMIM:620075 OMIM:608091 OMIM:614424 OMIM:619727 OMIM:614052 OMIM:618316 OMIM:601680 OMIM:619556 OMIM:614969 OMIM:619185 ORPHA:93357 OMIM:271510 OMIM:618947 ORPHA:978 OMIM:106260 OMIM:129400 OMIM:108120 ORPHA:352530 OMIM:613192 OMIM:253250 ORPHA:2576 OMIM:618825 OMIM:617061 OMIM:200600 ORPHA:166272 OMIM:617752 OMIM:618302 ORPHA:2635 OMIM:156530 OMIM:184252 OMIM:618454 OMIM:275100 ORPHA:90674 OMIM:619534 OMIM:156610 OMIM:617746 ORPHA:920 ORPHA:1231 OMIM:227260 ORPHA:1807 OMIM:608572 OMIM:300860 ORPHA:163956 OMIM:244450 OMIM:618744 ORPHA:30 OMIM:616801 OMIM:300676 OMIM:615824 OMIM:604173 OMIM:300968 ORPHA:480880 OMIM:617802 OMIM:277440 OMIM:216550 ORPHA:193 OMIM:617303 OMIM:616708 ORPHA:284169 ORPHA:466950 ORPHA:572798 OMIM:220210 OMIM:614376 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:618652 OMIM:618346 OMIM:619648 OMIM:276820 OMIM:616541 OMIM:615777 OMIM:619418 ORPHA:36367 OMIM:612337 OMIM:614069 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:609637 OMIM:618659 OMIM:275210 OMIM:619522 OMIM:619188 OMIM:615095 OMIM:619877 OMIM:619488 OMIM:603671 OMIM:617865
 

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