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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Wide nasal bridge (HP:0000431)help
Term ID: 431
Name: Wide nasal bridge
Synonym: Broad flat nasal bridge; Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge
Definition: Increased breadth of the nasal bridge (and with it, the nasal root).
Comments:
Reference: HP:0000431
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent nasal bridge (HP:0005285) help
..expandDepressed nasal bridge (HP:0005280) 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
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000431HP:0000431Wide nasal bridge0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000431HP:0000431Wide nasal bridge0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0000431HP:0000431Wide nasal bridge0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0000431HP:0000431Wide nasal bridge0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0000431HP:0000431Wide nasal bridge0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000431HP:0000431Wide nasal bridge0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000431HP:0000431Wide nasal bridge0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000431HP:0000431Wide nasal bridge0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11557177104620
HP:0000431HP:0000431Wide nasal bridge0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0000431HP:0000431Wide nasal bridge0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000431HP:0000431Wide nasal bridge0AGA CL E G H17593ORPHA138239318613228
HP:0000431HP:0000431Wide nasal bridge0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000431HP:0000431Wide nasal bridge0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000431HP:0000431Wide nasal bridge0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000431HP:0000431Wide nasal bridge0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000431HP:0000431Wide nasal bridge0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0000431HP:0000431Wide nasal bridge0ALX1 CL E G H8092306542ORPHA15291494601527
HP:0000431HP:0000431Wide nasal bridge0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM15291494601527
HP:0000431HP:0000431Wide nasal bridge0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000431HP:0000431Wide nasal bridge0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0000431HP:0000431Wide nasal bridge0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA14121926837300647
HP:0000431HP:0000431Wide nasal bridge0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000431HP:0000431Wide nasal bridge0ANKH CL E G H561721522ORPHA12233915492605145
HP:0000431HP:0000431Wide nasal bridge0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000431HP:0000431Wide nasal bridge0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000431HP:0000431Wide nasal bridge0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0000431HP:0000431Wide nasal bridge0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000431HP:0000431Wide nasal bridge0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000431HP:0000431Wide nasal bridge0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000431HP:0000431Wide nasal bridge0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000431HP:0000431Wide nasal bridge0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000431HP:0000431Wide nasal bridge0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000431HP:0000431Wide nasal bridge0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000431HP:0000431Wide nasal bridge0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000431HP:0000431Wide nasal bridge0ARVCF CL E G H421567ORPHA12477728602269
HP:0000431HP:0000431Wide nasal bridge0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0000431HP:0000431Wide nasal bridge0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000431HP:0000431Wide nasal bridge0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000431HP:0000431Wide nasal bridge0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0000431HP:0000431Wide nasal bridge0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000431HP:0000431Wide nasal bridge0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0000431HP:0000431Wide nasal bridge0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000431HP:0000431Wide nasal bridge0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0000431HP:0000431Wide nasal bridge0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0000431HP:0000431Wide nasal bridge0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0000431HP:0000431Wide nasal bridge0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000431HP:0000431Wide nasal bridge0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000431HP:0000431Wide nasal bridge0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000431HP:0000431Wide nasal bridge0BPTF CL E G H2186529962ORPHA114803581601819
HP:0000431HP:0000431Wide nasal bridge0BRAF CL E G H673500ORPHA1684901097164757
HP:0000431HP:0000431Wide nasal bridge0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000431HP:0000431Wide nasal bridge0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000431HP:0000431Wide nasal bridge0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000431HP:0000431Wide nasal bridge0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000431HP:0000431Wide nasal bridge0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM11194461497300172
HP:0000431HP:0000431Wide nasal bridge0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0000431HP:0000431Wide nasal bridge0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0000431HP:0000431Wide nasal bridge0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000431HP:0000431Wide nasal bridge0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000431HP:0000431Wide nasal bridge0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000431HP:0000431Wide nasal bridge0CCNQ CL E G H92002140952ORPHA11122828434300708
HP:0000431HP:0000431Wide nasal bridge0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000431HP:0000431Wide nasal bridge0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000431HP:0000431Wide nasal bridge0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000431HP:0000431Wide nasal bridge0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000431HP:0000431Wide nasal bridge0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000431HP:0000431Wide nasal bridge0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000431HP:0000431Wide nasal bridge0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000431HP:0000431Wide nasal bridge0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM110771918602120
HP:0000431HP:0000431Wide nasal bridge0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0000431HP:0000431Wide nasal bridge0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0000431HP:0000431Wide nasal bridge0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000431HP:0000431Wide nasal bridge0CLP1 CL E G H10978411493ORPHA123216999608757
HP:0000431HP:0000431Wide nasal bridge0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0000431HP:0000431Wide nasal bridge0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000431HP:0000431Wide nasal bridge0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000431HP:0000431Wide nasal bridge0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000431HP:0000431Wide nasal bridge0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0000431HP:0000431Wide nasal bridge0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000431HP:0000431Wide nasal bridge0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM1825822986608461
HP:0000431HP:0000431Wide nasal bridge0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1135917213612502
HP:0000431HP:0000431Wide nasal bridge0COMT CL E G H1312567ORPHA1155552228116790
HP:0000431HP:0000431Wide nasal bridge0COX7B CL E G H13492556ORPHA151642291300885
HP:0000431HP:0000431Wide nasal bridge0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000431HP:0000431Wide nasal bridge0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000431HP:0000431Wide nasal bridge0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000431HP:0000431Wide nasal bridge0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000431HP:0000431Wide nasal bridge0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0000431HP:0000431Wide nasal bridge0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000431HP:0000431Wide nasal bridge0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371612516604275
HP:0000431HP:0000431Wide nasal bridge0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0000431HP:0000431Wide nasal bridge0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000431HP:0000431Wide nasal bridge0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000431HP:0000431Wide nasal bridge0DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0000431HP:0000431Wide nasal bridge0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000431HP:0000431Wide nasal bridge0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000431HP:0000431Wide nasal bridge0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000431HP:0000431Wide nasal bridge0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000431HP:0000431Wide nasal bridge0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0000431HP:0000431Wide nasal bridge0DPF2 CL E G H59771465ORPHA19149964601671
HP:0000431HP:0000431Wide nasal bridge0DVL1 CL E G H18553107ORPHA1192443084601365
HP:0000431HP:0000431Wide nasal bridge0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000431HP:0000431Wide nasal bridge0DVL3 CL E G H18573107ORPHA115773087601368
HP:0000431HP:0000431Wide nasal bridge0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000431HP:0000431Wide nasal bridge0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0000431HP:0000431Wide nasal bridge0EDN3 CL E G H1908897ORPHA1211173178131242
HP:0000431HP:0000431Wide nasal bridge0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM110413179131243
HP:0000431HP:0000431Wide nasal bridge0EDNRB CL E G H1910897ORPHA1701913180131244
HP:0000431HP:0000431Wide nasal bridge0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000431HP:0000431Wide nasal bridge0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0000431HP:0000431Wide nasal bridge0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000431HP:0000431Wide nasal bridge0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000431HP:0000431Wide nasal bridge0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000431HP:0000431Wide nasal bridge0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000431HP:0000431Wide nasal bridge0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000431HP:0000431Wide nasal bridge0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000431HP:0000431Wide nasal bridge0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000431HP:0000431Wide nasal bridge0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000431HP:0000431Wide nasal bridge0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000431HP:0000431Wide nasal bridge0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000431HP:0000431Wide nasal bridge0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0000431HP:0000431Wide nasal bridge0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000431HP:0000431Wide nasal bridge0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0000431HP:0000431Wide nasal bridge0FBXO31 CL E G H79791615979Mental retardation, autosomal recessive 45615979C4014864OMIM138216510609102
HP:0000431HP:0000431Wide nasal bridge0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0000431HP:0000431Wide nasal bridge0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000431HP:0000431Wide nasal bridge0FGF3 CL E G H224890024ORPHA120353681164950
HP:0000431HP:0000431Wide nasal bridge0FGFR1 CL E G H22603366ORPHA12653883688136350
HP:0000431HP:0000431Wide nasal bridge0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000431HP:0000431Wide nasal bridge0FLII CL E G H2314819ORPHA121533750600362
HP:0000431HP:0000431Wide nasal bridge0FLNA CL E G H231690650ORPHA127114723754300017
HP:0000431HP:0000431Wide nasal bridge0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000431HP:0000431Wide nasal bridge0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM127114723754300017
HP:0000431HP:0000431Wide nasal bridge0FLNB CL E G H2317112310Boomerang dysplasia112310C0432201OMIM11225203755603381
HP:0000431HP:0000431Wide nasal bridge0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000431HP:0000431Wide nasal bridge0FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0000431HP:0000431Wide nasal bridge0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000431HP:0000431Wide nasal bridge0FREM1 CL E G H1583263366ORPHA13545423399608944
HP:0000431HP:0000431Wide nasal bridge0FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0000431HP:0000431Wide nasal bridge0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000431HP:0000431Wide nasal bridge0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM15284019602589
HP:0000431HP:0000431Wide nasal bridge0FZD2 CL E G H25353107ORPHA17304040600667
HP:0000431HP:0000431Wide nasal bridge0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0000431HP:0000431Wide nasal bridge0GABRD CL E G H25631606ORPHA172784084137163
HP:0000431HP:0000431Wide nasal bridge0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000431HP:0000431Wide nasal bridge0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000431HP:0000431Wide nasal bridge0GJA1 CL E G H26971522ORPHA11091414274121014
HP:0000431HP:0000431Wide nasal bridge0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11091414274121014
HP:0000431HP:0000431Wide nasal bridge0GLI3 CL E G H2737380ORPHA12445374319165240
HP:0000431HP:0000431Wide nasal bridge0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0000431HP:0000431Wide nasal bridge0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0000431HP:0000431Wide nasal bridge0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0000431HP:0000431Wide nasal bridge0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0000431HP:0000431Wide nasal bridge0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0000431HP:0000431Wide nasal bridge0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0000431HP:0000431Wide nasal bridge0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000431HP:0000431Wide nasal bridge0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000431HP:0000431Wide nasal bridge0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000431HP:0000431Wide nasal bridge0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000431HP:0000431Wide nasal bridge0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM192484454604404
HP:0000431HP:0000431Wide nasal bridge0GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0000431HP:0000431Wide nasal bridge0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000431HP:0000431Wide nasal bridge0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000431HP:0000431Wide nasal bridge0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000431HP:0000431Wide nasal bridge0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0000431HP:0000431Wide nasal bridge0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0000431HP:0000431Wide nasal bridge0HCCS CL E G H30522556ORPHA1142014837300056
HP:0000431HP:0000431Wide nasal bridge0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000431HP:0000431Wide nasal bridge0HIRA CL E G H7290567ORPHA153994916600237
HP:0000431HP:0000431Wide nasal bridge0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM1151444921143054
HP:0000431HP:0000431Wide nasal bridge0HSPG2 CL E G H3339224410Lethal Kniest-like syndrome224410C0432208OMIM1678625273142461
HP:0000431HP:0000431Wide nasal bridge0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0000431HP:0000431Wide nasal bridge0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000431HP:0000431Wide nasal bridge0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000431HP:0000431Wide nasal bridge0IDUA CL E G H342593473ORPHA12916225391252800
HP:0000431HP:0000431Wide nasal bridge0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0000431HP:0000431Wide nasal bridge0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000431HP:0000431Wide nasal bridge0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000431HP:0000431Wide nasal bridge0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000431HP:0000431Wide nasal bridge0IFT57 CL E G H55081617927OROFACIODIGITAL SYNDROME XVIII617927CN244546OMIM122717367606621
HP:0000431HP:0000431Wide nasal bridge0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000431HP:0000431Wide nasal bridge0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0000431HP:0000431Wide nasal bridge0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0000431HP:0000431Wide nasal bridge0IMPAD1 CL E G H54928614078Chondrodysplasia with joint dislocations, GPAPP type614078C3279757OMIM1526019614010
HP:0000431HP:0000431Wide nasal bridge0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000431HP:0000431Wide nasal bridge0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000431HP:0000431Wide nasal bridge0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000431HP:0000431Wide nasal bridge0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0000431HP:0000431Wide nasal bridge0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0000431HP:0000431Wide nasal bridge0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0000431HP:0000431Wide nasal bridge0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000431HP:0000431Wide nasal bridge0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0000431HP:0000431Wide nasal bridge0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000431HP:0000431Wide nasal bridge0KIAA0753 CL E G H9851617127Orofaciodigital syndrome XV617127C4310701OMIM176529110617112
HP:0000431HP:0000431Wide nasal bridge0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000431HP:0000431Wide nasal bridge0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000431HP:0000431Wide nasal bridge0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000431HP:0000431Wide nasal bridge0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000431HP:0000431Wide nasal bridge0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000431HP:0000431Wide nasal bridge0KMT2A CL E G H4297319182ORPHA11273797132159555
HP:0000431HP:0000431Wide nasal bridge0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0000431HP:0000431Wide nasal bridge0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000431HP:0000431Wide nasal bridge0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0000431HP:0000431Wide nasal bridge0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000431HP:0000431Wide nasal bridge0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000431HP:0000431Wide nasal bridge0LIG4 CL E G H398199812ORPHA1403176601601837
HP:0000431HP:0000431Wide nasal bridge0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000431HP:0000431Wide nasal bridge0LMNA CL E G H40002229ORPHA157411526636150330
HP:0000431HP:0000431Wide nasal bridge0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000431HP:0000431Wide nasal bridge0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM12146715714607544
HP:0000431HP:0000431Wide nasal bridge0LTBP3 CL E G H4054617809GELEOPHYSIC DYSPLASIA 3617809C4540511OMIM113926716602090
HP:0000431HP:0000431Wide nasal bridge0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM1182396717604710
HP:0000431HP:0000431Wide nasal bridge0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1221726776177075
HP:0000431HP:0000431Wide nasal bridge0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000431HP:0000431Wide nasal bridge0MAN1B1 CL E G H11253614202Mental retardation, autosomal recessive 15614202C3280127OMIM1272596823604346
HP:0000431HP:0000431Wide nasal bridge0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0000431HP:0000431Wide nasal bridge0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM113646859602614
HP:0000431HP:0000431Wide nasal bridge0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM167425133609728
HP:0000431HP:0000431Wide nasal bridge0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0000431HP:0000431Wide nasal bridge0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0000431HP:0000431Wide nasal bridge0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000431HP:0000431Wide nasal bridge0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0000431HP:0000431Wide nasal bridge0MITF CL E G H4286193510Waardenburg syndrome type 2A193510C1860339OMIM1612407105156845
HP:0000431HP:0000431Wide nasal bridge0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0000431HP:0000431Wide nasal bridge0MYH3 CL E G H46211147ORPHA1453157573160720
HP:0000431HP:0000431Wide nasal bridge0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM1453157573160720
HP:0000431HP:0000431Wide nasal bridge0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA1453157573160720
HP:0000431HP:0000431Wide nasal bridge0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0000431HP:0000431Wide nasal bridge0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000431HP:0000431Wide nasal bridge0NALCN CL E G H2592321147ORPHA16524719082611549
HP:0000431HP:0000431Wide nasal bridge0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM16524719082611549
HP:0000431HP:0000431Wide nasal bridge0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA16524719082611549
HP:0000431HP:0000431Wide nasal bridge0NDUFB11 CL E G H545392556ORPHA1616320372300403
HP:0000431HP:0000431Wide nasal bridge0NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0000431HP:0000431Wide nasal bridge0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA1303117744604588
HP:0000431HP:0000431Wide nasal bridge0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000431HP:0000431Wide nasal bridge0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000431HP:0000431Wide nasal bridge0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0000431HP:0000431Wide nasal bridge0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000431HP:0000431Wide nasal bridge0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0000431HP:0000431Wide nasal bridge0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000431HP:0000431Wide nasal bridge0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000431HP:0000431Wide nasal bridge0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000431HP:0000431Wide nasal bridge0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0000431HP:0000431Wide nasal bridge0OFD1 CL E G H84812750ORPHA11625102567300170
HP:0000431HP:0000431Wide nasal bridge0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000431HP:0000431Wide nasal bridge0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0000431HP:0000431Wide nasal bridge0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000431HP:0000431Wide nasal bridge0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000431HP:0000431Wide nasal bridge0PAX3 CL E G H5077894ORPHA11531818617606597
HP:0000431HP:0000431Wide nasal bridge0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0000431HP:0000431Wide nasal bridge0PAX3 CL E G H5077193500Waardenburg syndrome type 1193500C1847800OMIM11531818617606597
HP:0000431HP:0000431Wide nasal bridge0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0000431HP:0000431Wide nasal bridge0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000431HP:0000431Wide nasal bridge0PCNT CL E G H51162637HemimegalencephalyORPHA18888516068605925
HP:0000431HP:0000431Wide nasal bridge0PDE4D CL E G H5144950ORPHA1452318783600129
HP:0000431HP:0000431Wide nasal bridge0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000431HP:0000431Wide nasal bridge0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000431HP:0000431Wide nasal bridge0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000431HP:0000431Wide nasal bridge0PDGFRB CL E G H5159616592Kosaki overgrowth syndrome616592C4225270OMIM1241508804173410
HP:0000431HP:0000431Wide nasal bridge0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11934088806300502
HP:0000431HP:0000431Wide nasal bridge0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000431HP:0000431Wide nasal bridge0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000431HP:0000431Wide nasal bridge0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11404898850602136
HP:0000431HP:0000431Wide nasal bridge0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000431HP:0000431Wide nasal bridge0PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000431HP:0000431Wide nasal bridge0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000431HP:0000431Wide nasal bridge0PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000431HP:0000431Wide nasal bridge0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000431HP:0000431Wide nasal bridge0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000431HP:0000431Wide nasal bridge0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM1371818854601758
HP:0000431HP:0000431Wide nasal bridge0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000431HP:0000431Wide nasal bridge0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000431HP:0000431Wide nasal bridge0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000431HP:0000431Wide nasal bridge0PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000431HP:0000431Wide nasal bridge0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000431HP:0000431Wide nasal bridge0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000431HP:0000431Wide nasal bridge0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000431HP:0000431Wide nasal bridge0PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000431HP:0000431Wide nasal bridge0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0000431HP:0000431Wide nasal bridge0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000431HP:0000431Wide nasal bridge0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000431HP:0000431Wide nasal bridge0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000431HP:0000431Wide nasal bridge0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000431HP:0000431Wide nasal bridge0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000431HP:0000431Wide nasal bridge0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000431HP:0000431Wide nasal bridge0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000431HP:0000431Wide nasal bridge0PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000431HP:0000431Wide nasal bridge0PEX5 CL E G H5830202370Neonatal adrenoleucodystrophy202370C0282525OMIM1142809719600414
HP:0000431HP:0000431Wide nasal bridge0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000431HP:0000431Wide nasal bridge0PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000431HP:0000431Wide nasal bridge0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM175217893615187
HP:0000431HP:0000431Wide nasal bridge0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM1186023719611801
HP:0000431HP:0000431Wide nasal bridge0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM13232926270613629
HP:0000431HP:0000431Wide nasal bridge0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0000431HP:0000431Wide nasal bridge0PIGN CL E G H235562059ORPHA1344168967606097
HP:0000431HP:0000431Wide nasal bridge0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0000431HP:0000431Wide nasal bridge0PIGW CL E G H284098616025Hyperphosphatasia with mental retardation syndrome 5616025C4014958OMIM1413723213610275
HP:0000431HP:0000431Wide nasal bridge0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000431HP:0000431Wide nasal bridge0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0000431HP:0000431Wide nasal bridge0PLK4 CL E G H107332518ORPHA169411397605031
HP:0000431HP:0000431Wide nasal bridge0POLR1C CL E G H9533861ORPHA1219220194610060
HP:0000431HP:0000431Wide nasal bridge0POLR1D CL E G H51082861ORPHA1264820422613715
HP:0000431HP:0000431Wide nasal bridge0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000431HP:0000431Wide nasal bridge0PQBP1 CL E G H1008493946ORPHA1222289330300463
HP:0000431HP:0000431Wide nasal bridge0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000431HP:0000431Wide nasal bridge0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000431HP:0000431Wide nasal bridge0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0000431HP:0000431Wide nasal bridge0PRKAR1A CL E G H5573950ORPHA11884519388188830
HP:0000431HP:0000431Wide nasal bridge0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1117325557610087
HP:0000431HP:0000431Wide nasal bridge0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000431HP:0000431Wide nasal bridge0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000431HP:0000431Wide nasal bridge0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000431HP:0000431Wide nasal bridge0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000431HP:0000431Wide nasal bridge0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000431HP:0000431Wide nasal bridge0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000431HP:0000431Wide nasal bridge0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000431HP:0000431Wide nasal bridge0PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0000431HP:0000431Wide nasal bridge0PTCH1 CL E G H5727377ORPHA152920319585601309
HP:0000431HP:0000431Wide nasal bridge0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000431HP:0000431Wide nasal bridge0PTCH2 CL E G H8643377ORPHA1112819586603673
HP:0000431HP:0000431Wide nasal bridge0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000431HP:0000431Wide nasal bridge0PTPN11 CL E G H5781500ORPHA11434759644176876
HP:0000431HP:0000431Wide nasal bridge0PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0000431HP:0000431Wide nasal bridge0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0000431HP:0000431Wide nasal bridge0RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000431HP:0000431Wide nasal bridge0RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000431HP:0000431Wide nasal bridge0RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000431HP:0000431Wide nasal bridge0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM1131499811606462
HP:0000431HP:0000431Wide nasal bridge0RAF1 CL E G H5894500ORPHA1545089829164760
HP:0000431HP:0000431Wide nasal bridge0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000431HP:0000431Wide nasal bridge0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM11164049834607642
HP:0000431HP:0000431Wide nasal bridge0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM16599865180220
HP:0000431HP:0000431Wide nasal bridge0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000431HP:0000431Wide nasal bridge0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0000431HP:0000431Wide nasal bridge0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000431HP:0000431Wide nasal bridge0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000431HP:0000431Wide nasal bridge0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000431HP:0000431Wide nasal bridge0RERE CL E G H4731606ORPHA1251619965605226
HP:0000431HP:0000431Wide nasal bridge0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000431HP:0000431Wide nasal bridge0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000431HP:0000431Wide nasal bridge0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000431HP:0000431Wide nasal bridge0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000431HP:0000431Wide nasal bridge0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000431HP:0000431Wide nasal bridge0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000431HP:0000431Wide nasal bridge0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0000431HP:0000431Wide nasal bridge0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000431HP:0000431Wide nasal bridge0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000431HP:0000431Wide nasal bridge0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000431HP:0000431Wide nasal bridge0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000431HP:0000431Wide nasal bridge0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000431HP:0000431Wide nasal bridge0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000431HP:0000431Wide nasal bridge0RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM1107510440603658
HP:0000431HP:0000431Wide nasal bridge0RREB1 CL E G H6239567ORPHA11217110449602209
HP:0000431HP:0000431Wide nasal bridge0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000431HP:0000431Wide nasal bridge0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000431HP:0000431Wide nasal bridge0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM144810701610511
HP:0000431HP:0000431Wide nasal bridge0SEC24C CL E G H9632567ORPHA12410705607185
HP:0000431HP:0000431Wide nasal bridge0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000431HP:0000431Wide nasal bridge0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA1817410736609297
HP:0000431HP:0000431Wide nasal bridge0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0000431HP:0000431Wide nasal bridge0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000431HP:0000431Wide nasal bridge0SHANK3 CL E G H8535848652ORPHA119436614294606230
HP:0000431HP:0000431Wide nasal bridge0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0000431HP:0000431Wide nasal bridge0SHOX CL E G H6473240Say Carpenter syndromeORPHA143322510853312865
HP:0000431HP:0000431Wide nasal bridge0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000431HP:0000431Wide nasal bridge0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000431HP:0000431Wide nasal bridge0SKI CL E G H64971606ORPHA12450210896164780
HP:0000431HP:0000431Wide nasal bridge0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0000431HP:0000431Wide nasal bridge0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000431HP:0000431Wide nasal bridge0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000431HP:0000431Wide nasal bridge0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000431HP:0000431Wide nasal bridge0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000431HP:0000431Wide nasal bridge0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000431HP:0000431Wide nasal bridge0SMC1A CL E G H8243319182ORPHA110048411111300040
HP:0000431HP:0000431Wide nasal bridge0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000431HP:0000431Wide nasal bridge0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0000431HP:0000431Wide nasal bridge0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000431HP:0000431Wide nasal bridge0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0000431HP:0000431Wide nasal bridge0SOST CL E G H509641513Continuous spike-wave during slow sleep syndromeORPHA1177013771605740
HP:0000431HP:0000431Wide nasal bridge0SOST CL E G H50964122860Craniodiaphyseal dysplasia, autosomal dominant122860C2675746OMIM1177013771605740
HP:0000431HP:0000431Wide nasal bridge0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000431HP:0000431Wide nasal bridge0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0000431HP:0000431Wide nasal bridge0SOX10 CL E G H6663897ORPHA115119211190602229
HP:0000431HP:0000431Wide nasal bridge0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000431HP:0000431Wide nasal bridge0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM165911194601618
HP:0000431HP:0000431Wide nasal bridge0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000431HP:0000431Wide nasal bridge0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000431HP:0000431Wide nasal bridge0SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0000431HP:0000431Wide nasal bridge0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM1815629022614140
HP:0000431HP:0000431Wide nasal bridge0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000431HP:0000431Wide nasal bridge0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0000431HP:0000431Wide nasal bridge0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0000431HP:0000431Wide nasal bridge0STAT3 CL E G H67742314ORPHA115529111364102582
HP:0000431HP:0000431Wide nasal bridge0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13319430650610745
HP:0000431HP:0000431Wide nasal bridge0SUFU CL E G H51684377ORPHA14753316466607035
HP:0000431HP:0000431Wide nasal bridge0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000431HP:0000431Wide nasal bridge0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000431HP:0000431Wide nasal bridge0TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000431HP:0000431Wide nasal bridge0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0000431HP:0000431Wide nasal bridge0TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000431HP:0000431Wide nasal bridge0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000431HP:0000431Wide nasal bridge0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000431HP:0000431Wide nasal bridge0TBX1 CL E G H6899567ORPHA18255311592602054
HP:0000431HP:0000431Wide nasal bridge0TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA13629611605602427
HP:0000431HP:0000431Wide nasal bridge0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000431HP:0000431Wide nasal bridge0TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0000431HP:0000431Wide nasal bridge0TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000431HP:0000431Wide nasal bridge0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11815126050612418
HP:0000431HP:0000431Wide nasal bridge0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000431HP:0000431Wide nasal bridge0TNNI2 CL E G H71361147ORPHA1118711946191043
HP:0000431HP:0000431Wide nasal bridge0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM1118711946191043
HP:0000431HP:0000431Wide nasal bridge0TNNT3 CL E G H71401147ORPHA149111950600692
HP:0000431HP:0000431Wide nasal bridge0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM149111950600692
HP:0000431HP:0000431Wide nasal bridge0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0000431HP:0000431Wide nasal bridge0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000431HP:0000431Wide nasal bridge0TP63 CL E G H86261071ORPHA112828215979603273
HP:0000431HP:0000431Wide nasal bridge0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112828215979603273
HP:0000431HP:0000431Wide nasal bridge0TPM2 CL E G H71691147ORPHA14019912011190990
HP:0000431HP:0000431Wide nasal bridge0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM14019912011190990
HP:0000431HP:0000431Wide nasal bridge0TRAPPC9 CL E G H83696352530ORPHA11829830832611966
HP:0000431HP:0000431Wide nasal bridge0TRIM37 CL E G H45912576Grubben de Cock Borghgraef syndromeORPHA1231567523605073
HP:0000431HP:0000431Wide nasal bridge0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM1231567523605073
HP:0000431HP:0000431Wide nasal bridge0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000431HP:0000431Wide nasal bridge0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000431HP:0000431Wide nasal bridge0TUBGCP4 CL E G H272292518ORPHA167916691609610
HP:0000431HP:0000431Wide nasal bridge0TUBGCP6 CL E G H853782518ORPHA1748418127610053
HP:0000431HP:0000431Wide nasal bridge0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000431HP:0000431Wide nasal bridge0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0000431HP:0000431Wide nasal bridge0TWIST2 CL E G H1175811807ORPHA198820670607556
HP:0000431HP:0000431Wide nasal bridge0TWIST2 CL E G H1175811231ORPHA198820670607556
HP:0000431HP:0000431Wide nasal bridge0UBA1 CL E G H73171145ORPHA1535112469314370
HP:0000431HP:0000431Wide nasal bridge0UFD1 CL E G H7353567ORPHA1436812520601754
HP:0000431HP:0000431Wide nasal bridge0UMPS CL E G H737230ORPHA11322712563613891
HP:0000431HP:0000431Wide nasal bridge0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000431HP:0000431Wide nasal bridge0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000431HP:0000431Wide nasal bridge0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000431HP:0000431Wide nasal bridge0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0000431HP:0000431Wide nasal bridge0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000431HP:0000431Wide nasal bridge0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000431HP:0000431Wide nasal bridge0WNT5A CL E G H74743107ORPHA1115812784164975
HP:0000431HP:0000431Wide nasal bridge0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000431HP:0000431Wide nasal bridge0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0000431HP:0000431Wide nasal bridge0XRCC4 CL E G H751899812ORPHA1153712831194363
HP:0000431HP:0000431Wide nasal bridge0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0000431HP:0000431Wide nasal bridge0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000431HP:0000431Wide nasal bridge0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
HP:0000431HP:0000431Wide nasal bridge0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000431HP:0000431Wide nasal bridge0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000431HP:0000431Wide nasal bridge0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM021140572607245
HP:0000431HP:0000431Wide nasal bridge0BMP2 CL E G H650261295ORPHA037691069112261
HP:0000431HP:0000431Wide nasal bridge0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0000431HP:0000431Wide nasal bridge0CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000431HP:0000431Wide nasal bridge0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000431HP:0000431Wide nasal bridge0COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000431HP:0000431Wide nasal bridge0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000431HP:0000431Wide nasal bridge0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000431HP:0000431Wide nasal bridge0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA05324093512608177
HP:0000431HP:0000431Wide nasal bridge0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0000431HP:0000431Wide nasal bridge0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA071253749193067
HP:0000431HP:0000431Wide nasal bridge0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA01392153800601090
HP:0000431HP:0000431Wide nasal bridge0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000431HP:0000431Wide nasal bridge0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM0173729079609132
HP:0000431HP:0000431Wide nasal bridge0KIF11 CL E G H38322526ORPHA0701726388148760
HP:0000431HP:0000431Wide nasal bridge0KIF14 CL E G H9928616258Meckel syndrome 12616258C4015701OMIM0167719181611279
HP:0000431HP:0000431Wide nasal bridge0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000431HP:0000431Wide nasal bridge0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000431HP:0000431Wide nasal bridge0KIT CL E G H38152884ORPHA012111046342164920
HP:0000431HP:0000431Wide nasal bridge0KREMEN1 CL E G H83999617392Ectodermal dysplasia 13, hair/tooth type617392C4479322OMIM054317550609898
HP:0000431HP:0000431Wide nasal bridge0LMNA CL E G H4000264ORPHA057411526636150330
HP:0000431HP:0000431Wide nasal bridge0MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000431HP:0000431Wide nasal bridge0MAFB CL E G H99352774Hydrocephalus growth retardation skeletal anomaliesORPHA0251056408608968
HP:0000431HP:0000431Wide nasal bridge0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000431HP:0000431Wide nasal bridge0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM0726025994610916
HP:0000431HP:0000431Wide nasal bridge0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0000431HP:0000431Wide nasal bridge0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM01611226031610274
HP:0000431HP:0000431Wide nasal bridge0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0000431HP:0000431Wide nasal bridge0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA01041369005601542
HP:0000431HP:0000431Wide nasal bridge0POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA059317264616404
HP:0000431HP:0000431Wide nasal bridge0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM0115749413600899
HP:0000431HP:0000431Wide nasal bridge0RMRP CL E G H6023175ORPHA012341110031157660
HP:0000431HP:0000431Wide nasal bridge0RYR1 CL E G H6261324581ORPHA0688309410483180901
HP:0000431HP:0000431Wide nasal bridge0SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM0618210547602286
HP:0000431HP:0000431Wide nasal bridge0SNAI2 CL E G H65912884ORPHA046811094602150
HP:0000431HP:0000431Wide nasal bridge0SON CL E G H6651500150ORPHA02822411183182465
HP:0000431HP:0000431Wide nasal bridge0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM0512930172608626
HP:0000431HP:0000431Wide nasal bridge0TP63 CL E G H8626978ORPHA012828215979603273
HP:0000431HP:0000431Wide nasal bridge0TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM01829830832611966
HP:0000431HP:0000431Wide nasal bridge0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA014222112340604386
HP:0000431HP:0000431Wide nasal bridge0TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01317630551611595


Genes (398) :ABCA4 ABCC9 ACOX1 ACTB ACTG1 ACY1 ADAMTS3 ADAMTSL1 ADNP AGA AGBL5 AHI1 AHR ALG3 ALX1 ALX3 ALX4 AMER1 ANKH AP3B1 AP4B1 AP4E1 AP4S1 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARVCF ARX ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATRX B3GALT6 B4GALT7 BAZ1B BBS2 BEST1 BMP2 BPTF BRAF BRPF1 C8ORF37 C8orf37 CA4 CASK CCBE1 CCDC22 CCNK CCNQ CD96 CDC42 CDH11 CDHR1 CDK10 CDK13 CENPF CERKL CHD3 CHN1 CKAP2L CLIP2 CLP1 CLRN1 CNGA1 CNGB1 COG1 COL11A1 COL1A1 COL25A1 COL27A1 COL5A1 COL5A2 COLEC11 COMT COX7B CPLX1 CRB1 CREBBP CRX CSNK2A1 CTBP1 CTNND2 CTSD DCHS1 DEAF1 DHCR7 DHDDS DHX38 DIS3L2 DPF2 DVL1 DVL3 EDN3 EDNRA EDNRB EED EFNB1 ELN EP300 ERCC1 ERCC2 ERCC5 ERCC6 ESCO2 EXT1 EYS FAM161A FANCL FAT4 FBN1 FBXO31 FGD1 FGF3 FGFR1 FGFRL1 FLI1 FLII FLNA FLNB FOXC1 FOXL2 FRAS1 FREM1 FREM2 FSCN2 FUT8 FZD2 G6PC3 GABRD GATA4 GATAD2B GJA1 GLI3 GLUL GNE GNPAT GP1BB GPAA1 GPC3 GPC4 GPC6 GRIP1 GTF2I GTF2IRD1 GUCA1B HBA1 HBA2 HCCS HGSNAT HIRA HIVEP2 HSPG2 HYOU1 ICK IDH3B IDUA IFT122 IFT140 IFT172 IFT52 IFT57 IFT88 IGF1R IMPAD1 IMPDH1 IMPG2 IQSEC2 IRX5 JMJD1C KCNAB2 KCNH1 KCNJ8 KDM1A KDM6A KIAA0753 KIAA1549 KIF11 KIF14 KIF1BP KIF7 KIT KIZ KLHL7 KMT2A KMT2D KREMEN1 LARP7 LETM1 LIG4 LIMK1 LMNA LRAT LRPPRC LTBP3 LTBP4 MAF MAFB MAK MAN1B1 MAP3K7 MARS2 MED12 MEGF8 MERTK MID1 MITF MYCN MYH3 NAA10 NALCN NDUFB11 NECTIN1 NEK1 NEK2 NELFA NEU1 NOTCH2 NR2E3 NRAS NRL NSD2 NSUN2 NXN OFD1 OTUD6B PAH PAX3 PBX1 PCARE PCNT PDE4D PDE6A PDE6B PDE6G PDGFRB PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PIEZO2 PIGL PIGN PIGO PIGV PIGW PIK3R1 PITX2 PLK4 POLR1A POLR1C POLR1D POMGNT1 PQBP1 PRCD PRDM16 PRKAR1A PRKDC PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMD12 PTCH1 PTCH2 PTPN11 PUF60 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RARB RB1 RBM10 RBP3 RDH12 REEP6 RERE RFC2 RGR RHO RLBP1 RLIM RMRP ROM1 ROR2 RP1 RP2 RP9 RPE65 RPGR RPS7 RREB1 RYR1 SAG SC5D SCAPER SEC23A SEC24C SEMA4A SEMA5A SET SH3PXD2B SHANK3 SHOX SIN3A SKI SLC12A6 SLC35A2 SLC7A14 SMARCA4 SMARCB1 SMARCE1 SMC1A SMG9 SNAI2 SNAP29 SNRNP200 SON SOST SOX10 SOX11 SOX18 SOX5 SPATA7 SPECC1L SRCAP SRD5A3 STAT3 STRA6 STRADA SUFU TAPT1 TBC1D20 TBC1D24 TBL2 TBX1 TBX6 TCF4 TCOF1 TFAP2A TMEM70 TMEM94 TNNI2 TNNT3 TOE1 TOPORS TP63 TPM2 TRAPPC9 TRIM37 TRPS1 TTC8 TUB TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNL4A UBA1 UFD1 UMPS USH2A USP9X VPS33A WASHC5 WDR35 WHCR WNT5A WNT7A XRCC4 ZEB2 ZNF408 ZNF513 ZSWIM6

Diseases (288) :791 1517 239850 264470 243310 2995 609924 2136 521445 615873 93 608629 601110 306542 613456 136760 613451 2780 300373 1522 608233 614066 613744 614067 1465 251056 567 300215 97297 605039 278250 617403 616455 309580 75496 130070 904 261295 529962 500 617333 163937 300422 300749 235510 7 618147 140952 211750 616737 211380 617694 617360 243605 618205 233 272440 3255 411493 615803 611209 560 287 615155 265050 2556 194190 180849 617062 281 610127 601390 819 818 270400 2849 267000 3107 180700 616894 897 616367 617561 1520 304110 1466 268300 502 614083 615546 284979 615979 915 305400 90024 3366 2308 90650 305620 311300 112310 782 110100 2052 219000 618005 612541 1606 251071 615074 218400 380 175700 610015 3166 269921 222765 617810 373 312870 258315 98791 616977 224410 233600 612651 93473 218330 617102 617927 73273 270450 614078 611174 135500 616728 147920 617127 2526 616258 66629 609460 200990 2884 319182 605130 617392 615071 280 99812 264 2229 220111 617809 613177 601088 2774 614202 157800 617137 616430 300895 614976 300000 193510 164280 1147 601680 2053 193700 300855 616266 3253 2751 812 955 613224 611091 1507 2750 300804 311200 617452 2209 894 148820 193500 617641 2637 950 616592 312170 912 44 601539 614859 614886 202370 614207 615716 617146 280000 2059 614749 239300 616025 3163 269880 180500 2518 1200 861 93946 309500 615966 617157 377 109400 508488 615583 2510 614701 182290 615524 1587 311900 300978 175 268310 612563 324581 607330 607812 618106 137834 48652 606232 240 94065 613406 218000 300896 616920 609528 500150 617140 1513 122860 269500 163746 137940 616803 1519 145420 145410 2044 612713 2314 601186 611087 616897 615663 79500 220500 1797 610954 1297 614052 618316 614969 1071 978 106260 352530 613192 2576 253250 617746 1231 1807 1145 30 300968 617303 613610 276820 235730 603671
 

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