Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormality of the nasal bridge (HP:0000422)help
..Starting node
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Depressed nasal bridge (HP:0005280)help
Term ID: 5280
Name: Depressed nasal bridge
Synonym: Concave bridge of nose; Concave nasal bridge; Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Depressed nasal root/bridge; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge
Definition: Posterior positioning of the nasal root in relation to the overall facial profile for age.
Comments:
Reference: HP:0005280
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent nasal bridge (HP:0005285) help
..expandHypoplastic nasal bridge (HP:0005281) help
..expandNarrow nasal bridge (HP:0000446) help
..expandProminent nasal bridge (HP:0000426) help
..expandShort nasal bridge (HP:0003194) help
..expandWide nasal bridge (HP:0000431) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0005280HP:0005280Depressed nasal bridge0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0005280HP:0005280Depressed nasal bridge0ACOX1 CL E G H512971ORPHA126257119609751
HP:0005280HP:0005280Depressed nasal bridge0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0005280HP:0005280Depressed nasal bridge0ACSL4 CL E G H218286818ORPHA172093571300157
HP:0005280HP:0005280Depressed nasal bridge0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11516513201608990
HP:0005280HP:0005280Depressed nasal bridge0ADAMTS2 CL E G H95091901ORPHA112577218604539
HP:0005280HP:0005280Depressed nasal bridge0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0005280HP:0005280Depressed nasal bridge0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM165213841612243
HP:0005280HP:0005280Depressed nasal bridge0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0005280HP:0005280Depressed nasal bridge0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0005280HP:0005280Depressed nasal bridge0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0005280HP:0005280Depressed nasal bridge0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0005280HP:0005280Depressed nasal bridge0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0005280HP:0005280Depressed nasal bridge0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0005280HP:0005280Depressed nasal bridge0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0005280HP:0005280Depressed nasal bridge0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0005280HP:0005280Depressed nasal bridge0ALX4 CL E G H60529228390ORPHA127221450605420
HP:0005280HP:0005280Depressed nasal bridge0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0005280HP:0005280Depressed nasal bridge0AMMECR1 CL E G H994986818ORPHA15181467300195
HP:0005280HP:0005280Depressed nasal bridge0ANKH CL E G H561721522ORPHA12233915492605145
HP:0005280HP:0005280Depressed nasal bridge0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0005280HP:0005280Depressed nasal bridge0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0005280HP:0005280Depressed nasal bridge0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0005280HP:0005280Depressed nasal bridge0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0005280HP:0005280Depressed nasal bridge0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0005280HP:0005280Depressed nasal bridge0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0005280HP:0005280Depressed nasal bridge0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0005280HP:0005280Depressed nasal bridge0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0005280HP:0005280Depressed nasal bridge0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1333694604695
HP:0005280HP:0005280Depressed nasal bridge0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0005280HP:0005280Depressed nasal bridge0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0005280HP:0005280Depressed nasal bridge0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0005280HP:0005280Depressed nasal bridge0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0005280HP:0005280Depressed nasal bridge0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0005280HP:0005280Depressed nasal bridge0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0005280HP:0005280Depressed nasal bridge0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0005280HP:0005280Depressed nasal bridge0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0005280HP:0005280Depressed nasal bridge0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0005280HP:0005280Depressed nasal bridge0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12816619721613165
HP:0005280HP:0005280Depressed nasal bridge0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0005280HP:0005280Depressed nasal bridge0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0005280HP:0005280Depressed nasal bridge0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0005280HP:0005280Depressed nasal bridge0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0005280HP:0005280Depressed nasal bridge0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0005280HP:0005280Depressed nasal bridge0CCND2 CL E G H89483473ORPHA111851583123833
HP:0005280HP:0005280Depressed nasal bridge0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA134716892606037
HP:0005280HP:0005280Depressed nasal bridge0CDCA7 CL E G H838792268ORPHA164614628609937
HP:0005280HP:0005280Depressed nasal bridge0CDH11 CL E G H10091299ORPHA110401750600023
HP:0005280HP:0005280Depressed nasal bridge0CDKN1C CL E G H102885173ORPHA1814711786600856
HP:0005280HP:0005280Depressed nasal bridge0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0005280HP:0005280Depressed nasal bridge0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0005280HP:0005280Depressed nasal bridge0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0005280HP:0005280Depressed nasal bridge0COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0005280HP:0005280Depressed nasal bridge0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA1594712187120290
HP:0005280HP:0005280Depressed nasal bridge0COL1A1 CL E G H12771899ORPHA196711052197120150
HP:0005280HP:0005280Depressed nasal bridge0COL1A2 CL E G H12781899ORPHA15237942198120160
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA15707312200120140
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0005280HP:0005280Depressed nasal bridge0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142714312604594
HP:0005280HP:0005280Depressed nasal bridge0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137562364604237
HP:0005280HP:0005280Depressed nasal bridge0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0005280HP:0005280Depressed nasal bridge0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0005280HP:0005280Depressed nasal bridge0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0005280HP:0005280Depressed nasal bridge0DDRGK1 CL E G H6599293352ORPHA114216110616177
HP:0005280HP:0005280Depressed nasal bridge0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0005280HP:0005280Depressed nasal bridge0DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0005280HP:0005280Depressed nasal bridge0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0005280HP:0005280Depressed nasal bridge0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0005280HP:0005280Depressed nasal bridge0DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0005280HP:0005280Depressed nasal bridge0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0005280HP:0005280Depressed nasal bridge0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0005280HP:0005280Depressed nasal bridge0DOK7 CL E G H285489994ORPHA17545826594610285
HP:0005280HP:0005280Depressed nasal bridge0DPF2 CL E G H59771465ORPHA19149964601671
HP:0005280HP:0005280Depressed nasal bridge0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0005280HP:0005280Depressed nasal bridge0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0005280HP:0005280Depressed nasal bridge0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0005280HP:0005280Depressed nasal bridge0DVL1 CL E G H18553107ORPHA1192443084601365
HP:0005280HP:0005280Depressed nasal bridge0DVL3 CL E G H18573107ORPHA115773087601368
HP:0005280HP:0005280Depressed nasal bridge0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0005280HP:0005280Depressed nasal bridge0DYNC2H1 CL E G H7965993271ORPHA12078892962603297
HP:0005280HP:0005280Depressed nasal bridge0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0005280HP:0005280Depressed nasal bridge0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM13303473157300451
HP:0005280HP:0005280Depressed nasal bridge0EDAR CL E G H10913224900Autosomal recessive hypohidrotic ectodermal dysplasia syndrome224900C0406702OMIM1622332895604095
HP:0005280HP:0005280Depressed nasal bridge0EDARADD CL E G H128178224900Autosomal recessive hypohidrotic ectodermal dysplasia syndrome224900C0406702OMIM11015314341606603
HP:0005280HP:0005280Depressed nasal bridge0EDARADD CL E G H128178614941Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive614941C3539920OMIM11015314341606603
HP:0005280HP:0005280Depressed nasal bridge0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0005280HP:0005280Depressed nasal bridge0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0005280HP:0005280Depressed nasal bridge0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0005280HP:0005280Depressed nasal bridge0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0005280HP:0005280Depressed nasal bridge0ERF CL E G H2077617180Chitayat syndrome617180C4310679OMIM119753444611888
HP:0005280HP:0005280Depressed nasal bridge0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0005280HP:0005280Depressed nasal bridge0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0005280HP:0005280Depressed nasal bridge0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0005280HP:0005280Depressed nasal bridge0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0005280HP:0005280Depressed nasal bridge0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212903519601653
HP:0005280HP:0005280Depressed nasal bridge0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0005280HP:0005280Depressed nasal bridge0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0005280HP:0005280Depressed nasal bridge0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0005280HP:0005280Depressed nasal bridge0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12653883688136350
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22631555ORPHA11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22611860ORPHA1774313690134934
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM1774313690134934
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0005280HP:0005280Depressed nasal bridge0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0005280HP:0005280Depressed nasal bridge0FLII CL E G H2314819ORPHA121533750600362
HP:0005280HP:0005280Depressed nasal bridge0FLNA CL E G H231690652ORPHA127114723754300017
HP:0005280HP:0005280Depressed nasal bridge0FLNA CL E G H231690650ORPHA127114723754300017
HP:0005280HP:0005280Depressed nasal bridge0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H2317503ORPHA11225203755603381
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM11225203755603381
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H2317108721Atelosteogenesis type 3108721C3668942OMIM11225203755603381
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0005280HP:0005280Depressed nasal bridge0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0005280HP:0005280Depressed nasal bridge0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0005280HP:0005280Depressed nasal bridge0FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0005280HP:0005280Depressed nasal bridge0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0005280HP:0005280Depressed nasal bridge0FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0005280HP:0005280Depressed nasal bridge0FZD2 CL E G H25353107ORPHA17304040600667
HP:0005280HP:0005280Depressed nasal bridge0FZD2 CL E G H253593328ORPHA17304040600667
HP:0005280HP:0005280Depressed nasal bridge0FZD2 CL E G H2535164745Omodysplasia 2164745C2750355OMIM17304040600667
HP:0005280HP:0005280Depressed nasal bridge0GABRD CL E G H25631606ORPHA172784084137163
HP:0005280HP:0005280Depressed nasal bridge0GBA CL E G H262985212ORPHA14942064177606463
HP:0005280HP:0005280Depressed nasal bridge0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0005280HP:0005280Depressed nasal bridge0GJA1 CL E G H26971522ORPHA11091414274121014
HP:0005280HP:0005280Depressed nasal bridge0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0005280HP:0005280Depressed nasal bridge0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM11946328510610192
HP:0005280HP:0005280Depressed nasal bridge0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0005280HP:0005280Depressed nasal bridge0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H277894089ORPHA12792164392139320
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H277879444ORPHA12792164392139320
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H277879443ORPHA12792164392139320
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12792164392139320
HP:0005280HP:0005280Depressed nasal bridge0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0005280HP:0005280Depressed nasal bridge0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0005280HP:0005280Depressed nasal bridge0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0005280HP:0005280Depressed nasal bridge0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0005280HP:0005280Depressed nasal bridge0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0005280HP:0005280Depressed nasal bridge0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0005280HP:0005280Depressed nasal bridge0GPC6 CL E G H1008293329ORPHA192484454604404
HP:0005280HP:0005280Depressed nasal bridge0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM192484454604404
HP:0005280HP:0005280Depressed nasal bridge0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0005280HP:0005280Depressed nasal bridge0GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0005280HP:0005280Depressed nasal bridge0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0005280HP:0005280Depressed nasal bridge0HBB CL E G H3043231214ORPHA187110094827141900
HP:0005280HP:0005280Depressed nasal bridge0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0005280HP:0005280Depressed nasal bridge0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0005280HP:0005280Depressed nasal bridge0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0005280HP:0005280Depressed nasal bridge0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0005280HP:0005280Depressed nasal bridge0HELLS CL E G H30702268ORPHA16514861603946
HP:0005280HP:0005280Depressed nasal bridge0HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0005280HP:0005280Depressed nasal bridge0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16275111142968
HP:0005280HP:0005280Depressed nasal bridge0HRAS CL E G H32653071ORPHA1342955173190020
HP:0005280HP:0005280Depressed nasal bridge0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0005280HP:0005280Depressed nasal bridge0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0005280HP:0005280Depressed nasal bridge0HYAL1 CL E G H3373601492Deficiency of hyaluronoglucosaminidase601492C1291490OMIM13795320607071
HP:0005280HP:0005280Depressed nasal bridge0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H342593473ORPHA12916225391252800
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0005280HP:0005280Depressed nasal bridge0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0005280HP:0005280Depressed nasal bridge0IFT80 CL E G H5756093271ORPHA11321129262611177
HP:0005280HP:0005280Depressed nasal bridge0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA132636080600829
HP:0005280HP:0005280Depressed nasal bridge0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM132636080600829
HP:0005280HP:0005280Depressed nasal bridge0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0005280HP:0005280Depressed nasal bridge0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0005280HP:0005280Depressed nasal bridge0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0005280HP:0005280Depressed nasal bridge0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0005280HP:0005280Depressed nasal bridge0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0005280HP:0005280Depressed nasal bridge0KCNE5 CL E G H2363086818ORPHA141736241300328
HP:0005280HP:0005280Depressed nasal bridge0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0005280HP:0005280Depressed nasal bridge0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM1114918249613420
HP:0005280HP:0005280Depressed nasal bridge0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0005280HP:0005280Depressed nasal bridge0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0005280HP:0005280Depressed nasal bridge0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0005280HP:0005280Depressed nasal bridge0KIF22 CL E G H383593360ORPHA142726391603213
HP:0005280HP:0005280Depressed nasal bridge0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0005280HP:0005280Depressed nasal bridge0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0005280HP:0005280Depressed nasal bridge0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0005280HP:0005280Depressed nasal bridge0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0005280HP:0005280Depressed nasal bridge0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0005280HP:0005280Depressed nasal bridge0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM1917230922610350
HP:0005280HP:0005280Depressed nasal bridge0LONP1 CL E G H93611458ORPHA1191319479605490
HP:0005280HP:0005280Depressed nasal bridge0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM1191319479605490
HP:0005280HP:0005280Depressed nasal bridge0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0005280HP:0005280Depressed nasal bridge0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0005280HP:0005280Depressed nasal bridge0LTBP3 CL E G H4054617809GELEOPHYSIC DYSPLASIA 3617809C4540511OMIM113926716602090
HP:0005280HP:0005280Depressed nasal bridge0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0005280HP:0005280Depressed nasal bridge0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0005280HP:0005280Depressed nasal bridge0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM113646859602614
HP:0005280HP:0005280Depressed nasal bridge0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM167425133609728
HP:0005280HP:0005280Depressed nasal bridge0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0005280HP:0005280Depressed nasal bridge0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0005280HP:0005280Depressed nasal bridge0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0005280HP:0005280Depressed nasal bridge0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0005280HP:0005280Depressed nasal bridge0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0005280HP:0005280Depressed nasal bridge0MGP CL E G H425685202ORPHA112817060154870
HP:0005280HP:0005280Depressed nasal bridge0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM112817060154870
HP:0005280HP:0005280Depressed nasal bridge0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0005280HP:0005280Depressed nasal bridge0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0005280HP:0005280Depressed nasal bridge0MUSK CL E G H4593994ORPHA1222777525601296
HP:0005280HP:0005280Depressed nasal bridge0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0005280HP:0005280Depressed nasal bridge0MYOD1 CL E G H4654994ORPHA15317611159970
HP:0005280HP:0005280Depressed nasal bridge0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0005280HP:0005280Depressed nasal bridge0NAGA CL E G H466879280ORPHA1111307631104170
HP:0005280HP:0005280Depressed nasal bridge0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM1111307631104170
HP:0005280HP:0005280Depressed nasal bridge0NBN CL E G H4683647ORPHA114820457652602667
HP:0005280HP:0005280Depressed nasal bridge0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1301164917765613113
HP:0005280HP:0005280Depressed nasal bridge0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0005280HP:0005280Depressed nasal bridge0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0005280HP:0005280Depressed nasal bridge0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0005280HP:0005280Depressed nasal bridge0NPR2 CL E G H488240ORPHA1762227944108961
HP:0005280HP:0005280Depressed nasal bridge0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0005280HP:0005280Depressed nasal bridge0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0005280HP:0005280Depressed nasal bridge0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0005280HP:0005280Depressed nasal bridge0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM13533129092610991
HP:0005280HP:0005280Depressed nasal bridge0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0005280HP:0005280Depressed nasal bridge0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA110528615167411
HP:0005280HP:0005280Depressed nasal bridge0PAX3 CL E G H50771529ORPHA11531818617606597
HP:0005280HP:0005280Depressed nasal bridge0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H5144950ORPHA1452318783600129
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H5144280651ORPHA1452318783600129
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM1452318783600129
HP:0005280HP:0005280Depressed nasal bridge0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA1311298840613230
HP:0005280HP:0005280Depressed nasal bridge0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0005280HP:0005280Depressed nasal bridge0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0005280HP:0005280Depressed nasal bridge0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0005280HP:0005280Depressed nasal bridge0PEX11B CL E G H8799912ORPHA182478853603867
HP:0005280HP:0005280Depressed nasal bridge0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0005280HP:0005280Depressed nasal bridge0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0005280HP:0005280Depressed nasal bridge0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0005280HP:0005280Depressed nasal bridge0PEX14 CL E G H5195912ORPHA151768856601791
HP:0005280HP:0005280Depressed nasal bridge0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0005280HP:0005280Depressed nasal bridge0PEX19 CL E G H5824912ORPHA141339713600279
HP:0005280HP:0005280Depressed nasal bridge0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0005280HP:0005280Depressed nasal bridge0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0005280HP:0005280Depressed nasal bridge0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0005280HP:0005280Depressed nasal bridge0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0005280HP:0005280Depressed nasal bridge0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0005280HP:0005280Depressed nasal bridge0PEX6 CL E G H5190614862Peroxisome biogenesis disorder 4a (zellweger)614862C3553936OMIM11093758859601498
HP:0005280HP:0005280Depressed nasal bridge0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM1531878860601757
HP:0005280HP:0005280Depressed nasal bridge0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0005280HP:0005280Depressed nasal bridge0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0005280HP:0005280Depressed nasal bridge0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0005280HP:0005280Depressed nasal bridge0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0005280HP:0005280Depressed nasal bridge0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0005280HP:0005280Depressed nasal bridge0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0005280HP:0005280Depressed nasal bridge0PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0005280HP:0005280Depressed nasal bridge0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0005280HP:0005280Depressed nasal bridge0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0005280HP:0005280Depressed nasal bridge0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0005280HP:0005280Depressed nasal bridge0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0005280HP:0005280Depressed nasal bridge0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0005280HP:0005280Depressed nasal bridge0POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM146729210173110
HP:0005280HP:0005280Depressed nasal bridge0PPM1B CL E G H5495163693ORPHA11309276603770
HP:0005280HP:0005280Depressed nasal bridge0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0005280HP:0005280Depressed nasal bridge0PREPL CL E G H9581163693ORPHA11827030228609557
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1A CL E G H5573950ORPHA11884519388188830
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1A CL E G H5573280651ORPHA11884519388188830
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0005280HP:0005280Depressed nasal bridge0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0005280HP:0005280Depressed nasal bridge0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1117325557610087
HP:0005280HP:0005280Depressed nasal bridge0PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM165820199588601728
HP:0005280HP:0005280Depressed nasal bridge0PTH1R CL E G H574550945ORPHA1451009608168468
HP:0005280HP:0005280Depressed nasal bridge0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0005280HP:0005280Depressed nasal bridge0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16719317063602536
HP:0005280HP:0005280Depressed nasal bridge0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11629417168609275
HP:0005280HP:0005280Depressed nasal bridge0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0005280HP:0005280Depressed nasal bridge0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0005280HP:0005280Depressed nasal bridge0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0005280HP:0005280Depressed nasal bridge0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0005280HP:0005280Depressed nasal bridge0RAPSN CL E G H5913994ORPHA1602119863601592
HP:0005280HP:0005280Depressed nasal bridge0RERE CL E G H4731606ORPHA1251619965605226
HP:0005280HP:0005280Depressed nasal bridge0RIPK4 CL E G H541011401ORPHA116222496605706
HP:0005280HP:0005280Depressed nasal bridge0RMRP CL E G H6023175ORPHA112341110031157660
HP:0005280HP:0005280Depressed nasal bridge0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0005280HP:0005280Depressed nasal bridge0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0005280HP:0005280Depressed nasal bridge0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0005280HP:0005280Depressed nasal bridge0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0005280HP:0005280Depressed nasal bridge0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0005280HP:0005280Depressed nasal bridge0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0005280HP:0005280Depressed nasal bridge0SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM11335419869613619
HP:0005280HP:0005280Depressed nasal bridge0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0005280HP:0005280Depressed nasal bridge0SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM11987323604061
HP:0005280HP:0005280Depressed nasal bridge0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0005280HP:0005280Depressed nasal bridge0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0005280HP:0005280Depressed nasal bridge0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0005280HP:0005280Depressed nasal bridge0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0005280HP:0005280Depressed nasal bridge0SHOX CL E G H6473240Say Carpenter syndromeORPHA143322510853312865
HP:0005280HP:0005280Depressed nasal bridge0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM1922829215300579
HP:0005280HP:0005280Depressed nasal bridge0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0005280HP:0005280Depressed nasal bridge0SIX2 CL E G H10736488437ORPHA192010888604994
HP:0005280HP:0005280Depressed nasal bridge0SKI CL E G H64971606ORPHA12450210896164780
HP:0005280HP:0005280Depressed nasal bridge0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0005280HP:0005280Depressed nasal bridge0SLC26A2 CL E G H1836628ORPHA15531810994606718
HP:0005280HP:0005280Depressed nasal bridge0SLC26A2 CL E G H1836256050Atelosteogenesis type 2256050C1850554OMIM15531810994606718
HP:0005280HP:0005280Depressed nasal bridge0SLC3A1 CL E G H6519163693ORPHA124121111025104614
HP:0005280HP:0005280Depressed nasal bridge0SLC45A1 CL E G H50651617532INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES617532C4479636OMIM135717939605763
HP:0005280HP:0005280Depressed nasal bridge0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0005280HP:0005280Depressed nasal bridge0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0005280HP:0005280Depressed nasal bridge0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0005280HP:0005280Depressed nasal bridge0SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0005280HP:0005280Depressed nasal bridge0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0005280HP:0005280Depressed nasal bridge0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0005280HP:0005280Depressed nasal bridge0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0005280HP:0005280Depressed nasal bridge0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0005280HP:0005280Depressed nasal bridge0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0005280HP:0005280Depressed nasal bridge0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0005280HP:0005280Depressed nasal bridge0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0005280HP:0005280Depressed nasal bridge0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0005280HP:0005280Depressed nasal bridge0SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0005280HP:0005280Depressed nasal bridge0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0005280HP:0005280Depressed nasal bridge0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0005280HP:0005280Depressed nasal bridge0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0005280HP:0005280Depressed nasal bridge0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0005280HP:0005280Depressed nasal bridge0SOST CL E G H509641513Continuous spike-wave during slow sleep syndromeORPHA1177013771605740
HP:0005280HP:0005280Depressed nasal bridge0SOST CL E G H50964122860Craniodiaphyseal dysplasia, autosomal dominant122860C2675746OMIM1177013771605740
HP:0005280HP:0005280Depressed nasal bridge0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0005280HP:0005280Depressed nasal bridge0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0005280HP:0005280Depressed nasal bridge0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0005280HP:0005280Depressed nasal bridge0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0005280HP:0005280Depressed nasal bridge0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0005280HP:0005280Depressed nasal bridge0SP7 CL E G H121340613849Osteogenesis imperfecta type 12613849C3151433OMIM133817321606633
HP:0005280HP:0005280Depressed nasal bridge0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM1815629022614140
HP:0005280HP:0005280Depressed nasal bridge0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0005280HP:0005280Depressed nasal bridge0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0005280HP:0005280Depressed nasal bridge0STX16 CL E G H867594089ORPHA1615511431603666
HP:0005280HP:0005280Depressed nasal bridge0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0005280HP:0005280Depressed nasal bridge0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0005280HP:0005280Depressed nasal bridge0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0005280HP:0005280Depressed nasal bridge0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1816111582604934
HP:0005280HP:0005280Depressed nasal bridge0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM1155311597600747
HP:0005280HP:0005280Depressed nasal bridge0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0005280HP:0005280Depressed nasal bridge0TFAP2B CL E G H702146627ORPHA1155711743601601
HP:0005280HP:0005280Depressed nasal bridge0TGIF1 CL E G H7050142946Holoprosencephaly 4142946C1840528OMIM12817011776602630
HP:0005280HP:0005280Depressed nasal bridge0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0005280HP:0005280Depressed nasal bridge0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0005280HP:0005280Depressed nasal bridge0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0005280HP:0005280Depressed nasal bridge0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0005280HP:0005280Depressed nasal bridge0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM1231567523605073
HP:0005280HP:0005280Depressed nasal bridge0TRIP11 CL E G H9321200600Achondrogenesis, type IA200600C0265273OMIM11731512305604505
HP:0005280HP:0005280Depressed nasal bridge0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM1339912306604506
HP:0005280HP:0005280Depressed nasal bridge0TRPV4 CL E G H5934193314ORPHA18253918083605427
HP:0005280HP:0005280Depressed nasal bridge0TRPV4 CL E G H593412635ORPHA18253918083605427
HP:0005280HP:0005280Depressed nasal bridge0TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM1142512372188540
HP:0005280HP:0005280Depressed nasal bridge0TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0005280HP:0005280Depressed nasal bridge0TWIST2 CL E G H117581227260Congenital ectodermal dysplasia of face227260C1744559OMIM198820670607556
HP:0005280HP:0005280Depressed nasal bridge0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0005280HP:0005280Depressed nasal bridge0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM122821237614461
HP:0005280HP:0005280Depressed nasal bridge0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0005280HP:0005280Depressed nasal bridge0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0005280HP:0005280Depressed nasal bridge0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0005280HP:0005280Depressed nasal bridge0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0005280HP:0005280Depressed nasal bridge0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0005280HP:0005280Depressed nasal bridge0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0005280HP:0005280Depressed nasal bridge0WDR34 CL E G H8989193271ORPHA12128296613363
HP:0005280HP:0005280Depressed nasal bridge0WDR35 CL E G H5753993271ORPHA13129229250613602
HP:0005280HP:0005280Depressed nasal bridge0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0005280HP:0005280Depressed nasal bridge0WDR60 CL E G H5511293271ORPHA11321862615462
HP:0005280HP:0005280Depressed nasal bridge0WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM11321862615462
HP:0005280HP:0005280Depressed nasal bridge0WNT5A CL E G H74743107ORPHA1115812784164975
HP:0005280HP:0005280Depressed nasal bridge0XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA12316715516608124
HP:0005280HP:0005280Depressed nasal bridge0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM12316715516608124
HP:0005280HP:0005280Depressed nasal bridge0ZBTB18 CL E G H1047236367ORPHA13213813030608433
HP:0005280HP:0005280Depressed nasal bridge0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0005280HP:0005280Depressed nasal bridge0ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0005280HP:0005280Depressed nasal bridge0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0005280HP:0005280Depressed nasal bridge0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005280HP:0005280Depressed nasal bridge0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0005280HP:0005280Depressed nasal bridge0ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM027221450605420
HP:0005280HP:0005280Depressed nasal bridge0ANK1 CL E G H286251066ORPHA0111388492612641
HP:0005280HP:0005280Depressed nasal bridge0ANOS1 CL E G H3730432ArbovirosisORPHA01913466211300836
HP:0005280HP:0005280Depressed nasal bridge0B3GLCT CL E G H145173709ORPHA01518120207610308
HP:0005280HP:0005280Depressed nasal bridge0BMP2 CL E G H650261295ORPHA037691069112261
HP:0005280HP:0005280Depressed nasal bridge0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0005280HP:0005280Depressed nasal bridge0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM0515530794607951
HP:0005280HP:0005280Depressed nasal bridge0CHD7 CL E G H55636432ArbovirosisORPHA0884126620626608892
HP:0005280HP:0005280Depressed nasal bridge0COL18A1 CL E G H807811571ORPHA0364472195120328
HP:0005280HP:0005280Depressed nasal bridge0CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0005280HP:0005280Depressed nasal bridge0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0005280HP:0005280Depressed nasal bridge0DUSP6 CL E G H1848432ArbovirosisORPHA05243072602748
HP:0005280HP:0005280Depressed nasal bridge0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM0192443084601365
HP:0005280HP:0005280Depressed nasal bridge0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM015773087601368
HP:0005280HP:0005280Depressed nasal bridge0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM0171803219604633
HP:0005280HP:0005280Depressed nasal bridge0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0005280HP:0005280Depressed nasal bridge0FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0005280HP:0005280Depressed nasal bridge0FGF17 CL E G H8822432ArbovirosisORPHA05823673603725
HP:0005280HP:0005280Depressed nasal bridge0FGF8 CL E G H2253432ArbovirosisORPHA041543686600483
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H2260432ArbovirosisORPHA02653883688136350
HP:0005280HP:0005280Depressed nasal bridge0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA01392153800601090
HP:0005280HP:0005280Depressed nasal bridge0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM01020613254300499
HP:0005280HP:0005280Depressed nasal bridge0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0005280HP:0005280Depressed nasal bridge0GNRH1 CL E G H2796432ArbovirosisORPHA012974419152760
HP:0005280HP:0005280Depressed nasal bridge0GNRHR CL E G H2798432ArbovirosisORPHA0591584421138850
HP:0005280HP:0005280Depressed nasal bridge0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0005280HP:0005280Depressed nasal bridge0HS6ST1 CL E G H9394432ArbovirosisORPHA08335201604846
HP:0005280HP:0005280Depressed nasal bridge0KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0005280HP:0005280Depressed nasal bridge0KISS1 CL E G H3814432ArbovirosisORPHA015256341603286
HP:0005280HP:0005280Depressed nasal bridge0KISS1R CL E G H84634432ArbovirosisORPHA039784510604161
HP:0005280HP:0005280Depressed nasal bridge0KREMEN1 CL E G H83999617392Ectodermal dysplasia 13, hair/tooth type617392C4479322OMIM054317550609898
HP:0005280HP:0005280Depressed nasal bridge0LBR CL E G H3930169400Pelger-Hu√ęt anomaly169400C0030779OMIM0281726518600024
HP:0005280HP:0005280Depressed nasal bridge0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0005280HP:0005280Depressed nasal bridge0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0005280HP:0005280Depressed nasal bridge0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0005280HP:0005280Depressed nasal bridge0METTL23 CL E G H124512615942Mental retardation, autosomal recessive 44615942C4014745OMIM054026988615262
HP:0005280HP:0005280Depressed nasal bridge0NSMF CL E G H26012432ArbovirosisORPHA0910429843608137
HP:0005280HP:0005280Depressed nasal bridge0PIK3CA CL E G H529060040ORPHA0573798975171834
HP:0005280HP:0005280Depressed nasal bridge0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA01041369005601542
HP:0005280HP:0005280Depressed nasal bridge0PROK2 CL E G H60675432ArbovirosisORPHA0213418455607002
HP:0005280HP:0005280Depressed nasal bridge0PROKR2 CL E G H128674432ArbovirosisORPHA0839815836607123
HP:0005280HP:0005280Depressed nasal bridge0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0005280HP:0005280Depressed nasal bridge0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0005280HP:0005280Depressed nasal bridge0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM04025810257602337
HP:0005280HP:0005280Depressed nasal bridge0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM0282132468606062
HP:0005280HP:0005280Depressed nasal bridge0SON CL E G H6651500150ORPHA02822411183182465
HP:0005280HP:0005280Depressed nasal bridge0SOX9 CL E G H6662140Atresia of small intestineORPHA014915511204608160
HP:0005280HP:0005280Depressed nasal bridge0SPRY4 CL E G H81848432ArbovirosisORPHA0113315533607984
HP:0005280HP:0005280Depressed nasal bridge0TAC3 CL E G H6866432ArbovirosisORPHA0101911521162330
HP:0005280HP:0005280Depressed nasal bridge0TACR3 CL E G H6870432ArbovirosisORPHA0377911528162332
HP:0005280HP:0005280Depressed nasal bridge0TBX4 CL E G H9496261279ORPHA05913511603601719
HP:0005280HP:0005280Depressed nasal bridge0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA098820670607556
HP:0005280HP:0005280Depressed nasal bridge0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM0255413478608047
HP:0005280HP:0005280Depressed nasal bridge0WDR11 CL E G H55717432ArbovirosisORPHA0189113831606417
HP:0005280HP:0005280Depressed nasal bridge0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM0115812784164975
HP:0005280HP:0005280Depressed nasal bridge0ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM012315412873603073


Genes (339) :ABCC9 ACOX1 ACSL4 ADAMTS10 ADAMTS2 ADAMTS3 ADGRG6 AGA AGL AHDC1 AKT1 AKT3 ALDH6A1 ALG3 ALG9 ALX4 AMMECR1 ANK1 ANKH ANOS1 ANTXR1 ARID1A ARID1B ARID2 ARL3 ARSB ARSE ATRX B3GAT3 B3GLCT BMP2 BMPER BRAF BUB1B CACNA1C CAMKMT CANT1 CBL CCBE1 CCDC22 CCND2 CD96 CDCA7 CDH11 CDK10 CDKN1C CEP57 CHD7 CHST3 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL2A1 CRIPT CRLF1 CSPP1 CUL4B CUL7 DDR2 DDRGK1 DEAF1 DHCR24 DHCR7 DIS3L2 DLL3 DNMT3B DOCK6 DOK7 DPF2 DPH1 DPM1 DUSP6 DVL1 DVL3 DYNC2H1 DYNC2LI1 EDA EDAR EDARADD EED EEF1A2 EFEMP2 EIF2AK3 ELN ERF ETFA ETFB ETFDH EXTL3 EYA1 EZH2 FAM20C FANCL FAT4 FBN1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FH FLII FLNA FLNB FOXC1 FOXG1 FOXL2 FRAS1 FREM2 FTSJ1 FZD2 GABRD GBA GJA1 GLI2 GLI3 GLIS3 GLUL GMNN GNAS GNPAT GNPTAB GNRH1 GNRHR GNS GPC3 GPC4 GPC6 GPX4 GRIP1 GTPBP2 HBB HDAC4 HDAC8 HECW2 HELLS HES7 HOXB1 HRAS HS6ST1 HSD17B4 HYAL1 IARS2 IDUA IFT52 IFT80 INPPL1 INSR IQSEC2 JAG1 KAT6B KCNAB2 KCNE5 KCNH1 KCTD1 KIAA0586 KIAA1109 KIF11 KIF22 KISS1 KISS1R KMT2A KRAS KREMEN1 LARP7 LBR LFNG LIG4 LINS1 LONP1 LRP2 LTBP3 MAF MAP2K1 MAP2K2 MAP3K7 MARS2 MECP2 MED12 MED13L MEF2C MEGF8 MESP2 METTL23 MGP MLXIPL MTOR MUSK MYMK MYOD1 NAA10 NAGA NBN NF1 NFIX NIPBL NPR2 NRAS NSMF NSUN2 NXN OBSL1 PAM16 PAX1 PAX3 PCLO PDE4D PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PIGA PIGL PIGN PIGT PIGY PIK3CA PIK3R2 PITX2 PLOD1 PMM2 POGZ POR POU1F1 PPM1B PRDM16 PREPL PRKAR1A PRKD1 PRMT7 PROK2 PROKR2 PTEN PTH1R RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RAPSN RERE RIPK4 RIPPLY2 RMRP ROR2 RPS23 RPS6KA3 RSPRY1 RUNX2 SCARF2 SEMA3E SEPT9 SEPTIN9 SETBP1 SETD5 SH3PXD2B SHOX SHROOM4 SIN3A SIX2 SKI SLC25A24 SLC26A2 SLC3A1 SLC45A1 SLC6A9 SMARCA4 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMC3 SMG9 SMOC1 SNAP29 SON SOS1 SOST SOX11 SOX5 SOX9 SP7 SPECC1L SPRY4 SRD5A3 STX16 SUMF1 TAC3 TACR3 TALDO1 TBCE TBX2 TBX4 TFAP2A TFAP2B TGIF1 TMEM216 TMEM94 TOE1 TP63 TRIM37 TRIP11 TRIP12 TRPV4 TSHB TWIST1 TWIST2 UBE2A UBE3B UQCC2 USP9X VARS WAC WASHC5 WDR11 WDR26 WDR34 WDR35 WDR60 WNT5A XYLT1 ZBTB18 ZBTB24 ZIC2 ZSWIM6

Diseases (344) :239850 2971 264470 86818 277600 1901 2136 616503 208400 232400 615829 744 176920 83473 614105 601110 608776 228390 613451 609597 251066 1522 432 2067 230740 1465 614607 135900 617808 618161 253200 302950 301040 309580 245600 709 261295 608022 115150 1340 613707 613706 257300 601005 163693 1425 251450 613563 235510 7 1308 2268 1299 617694 85173 614732 614114 138 2021 560 228520 154780 604841 3450 1571 1899 85166 485 156550 108300 615789 272430 397715 300354 273750 271665 93352 819 35107 270400 267000 2311 242860 614219 994 618027 616901 608799 3107 180700 616894 93271 617088 305100 224900 614941 617561 616393 614437 226980 194050 617180 231680 617425 2792 277590 259775 614083 616006 608328 93258 2117 166250 101600 93260 794 1555 93259 87 101200 207410 93274 1860 100800 15 616482 606812 90652 90650 304120 503 108720 108721 150250 782 261144 110100 2052 219000 309549 93328 164745 1606 85212 608013 610829 146510 610199 610015 616835 79444 94089 79443 103580 612462 612463 222765 576 252500 252940 312870 93329 258315 250220 617988 231214 1001 199 300882 617268 616911 614744 3071 218040 261515 601492 616007 93473 607014 607015 607016 617102 2746 258480 508 118450 603736 611816 181270 616546 617822 152950 93360 617392 615071 215140 169400 235 614340 1458 600373 222448 2143 617809 601088 617137 616430 300260 300895 616789 613443 614976 615942 85202 245150 616638 254940 300855 79280 609242 647 601321 602535 122470 40 613224 1507 612921 613320 1529 608027 280651 950 614613 742 170100 912 614883 614862 215100 300868 280000 614080 615398 616809 60040 602501 225400 212065 616364 201750 613038 101800 617364 617157 605309 50945 201000 1387 212720 611554 1401 175 268310 617412 192 616723 1452 119600 600920 162100 269150 615761 137834 240 300434 613406 488437 612289 628 256050 617532 617301 614609 1830 242900 614608 616938 610759 616920 1106 206920 609528 500150 617140 610733 1513 122860 269500 615866 616803 140 114290 613849 145420 145410 612379 585 606003 241410 2323 618223 261279 113620 46627 142946 608091 618316 614969 129400 253250 200600 617752 93314 2635 275100 920 227260 300860 244450 615824 300968 617802 616708 220210 617616 613610 615503 615777 36367 612337 614069 609637 617865
 

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