Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the fontanelles or cranial sutures (HP:0000235)help
Parent Node:
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Abnormality of cranial sutures (HP:0011329)help
..Starting node
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Wormian bones (HP:0002645)help
Term ID: 2645
Name: Wormian bones
Synonym: Extra bones within cranial sutures; Intra sutural bones; Intrasutural bones; Islands of bone within cranial sutures
Definition: The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Comments:
Reference: HP:0002645
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the metopic suture (HP:0005556) help
..expandAccessory cranial suture (HP:0012800) help
..expandCraniosynostosis (HP:0001363) help
..expandDelayed cranial suture closure (HP:0000270) help
..expandRidged cranial sutures (HP:0010823) help
..expandSclerotic cranial sutures (HP:0005441) help
..expandWide cranial sutures (HP:0010537) help
..expandWidely patent coronal suture (HP:0005442) help
..expandWidely patent sagittal suture (HP:0005476) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002645HP:0002645Wormian bones0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0002645HP:0002645Wormian bones0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0002645HP:0002645Wormian bones0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0002645HP:0002645Wormian bones0ATP7A CL E G H538565ORPHA1357607869300011
HP:0002645HP:0002645Wormian bones0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0002645HP:0002645Wormian bones0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0002645HP:0002645Wormian bones0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0002645HP:0002645Wormian bones0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM196711052197120150
HP:0002645HP:0002645Wormian bones0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM196711052197120150
HP:0002645HP:0002645Wormian bones0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM196711052197120150
HP:0002645HP:0002645Wormian bones0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM196711052197120150
HP:0002645HP:0002645Wormian bones0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM15237942198120160
HP:0002645HP:0002645Wormian bones0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM15237942198120160
HP:0002645HP:0002645Wormian bones0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM15237942198120160
HP:0002645HP:0002645Wormian bones0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM15237942198120160
HP:0002645HP:0002645Wormian bones0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM1303062379605497
HP:0002645HP:0002645Wormian bones0CTSK CL E G H1513763ORPHA158972536601105
HP:0002645HP:0002645Wormian bones0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM158972536601105
HP:0002645HP:0002645Wormian bones0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0002645HP:0002645Wormian bones0FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0002645HP:0002645Wormian bones0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA14416118169607063
HP:0002645HP:0002645Wormian bones0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM14416118169607063
HP:0002645HP:0002645Wormian bones0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0002645HP:0002645Wormian bones0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM11610825676607983
HP:0002645HP:0002645Wormian bones0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181455154601688
HP:0002645HP:0002645Wormian bones0IFITM5 CL E G H387733610967Osteogenesis imperfecta type 5610967C1970414OMIM136316644614757
HP:0002645HP:0002645Wormian bones0KIF1A CL E G H547970ORPHA1431059888601255
HP:0002645HP:0002645Wormian bones0LMNA CL E G H400090153ORPHA157411526636150330
HP:0002645HP:0002645Wormian bones0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM157411526636150330
HP:0002645HP:0002645Wormian bones0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0002645HP:0002645Wormian bones0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0002645HP:0002645Wormian bones0NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0002645HP:0002645Wormian bones0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0002645HP:0002645Wormian bones0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM16526419316610339
HP:0002645HP:0002645Wormian bones0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA111478548176790
HP:0002645HP:0002645Wormian bones0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0002645HP:0002645Wormian bones0PLOD2 CL E G H5352609220Bruck syndrome 2609220C1836602OMIM1231459082601865
HP:0002645HP:0002645Wormian bones0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA1231459082601865
HP:0002645HP:0002645Wormian bones0PPIB CL E G H5479259440Osteogenesis imperfecta type 9259440C1850169OMIM113799255123841
HP:0002645HP:0002645Wormian bones0RETREG1 CL E G H54463970ORPHA1628925964613114
HP:0002645HP:0002645Wormian bones0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0002645HP:0002645Wormian bones0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0002645HP:0002645Wormian bones0SCN9A CL E G H6335970ORPHA1129109210597603415
HP:0002645HP:0002645Wormian bones0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM1127810706607186
HP:0002645HP:0002645Wormian bones0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA1127810706607186
HP:0002645HP:0002645Wormian bones0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0002645HP:0002645Wormian bones0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0002645HP:0002645Wormian bones0SP7 CL E G H121340613849Osteogenesis imperfecta type 12613849C3151433OMIM133817321606633
HP:0002645HP:0002645Wormian bones0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0002645HP:0002645Wormian bones0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0002645HP:0002645Wormian bones0TNXB CL E G H7148285Impossible syndromeORPHA13824411976600985
HP:0002645HP:0002645Wormian bones0WNK1 CL E G H65125970ORPHA11882014540605232
HP:0002645HP:0002645Wormian bones0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM13413612877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002645HP:0002645Wormian bones0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM0332529722138250
HP:0002645HP:0002645Wormian bones0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM01111518037609539
HP:0002645HP:0002645Wormian bones0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM0212231067112264
HP:0002645HP:0002645Wormian bones0DDRGK1 CL E G H6599293352ORPHA014216110616177
HP:0002645HP:0002645Wormian bones0EFEMP2 CL E G H3000890349ORPHA0171803219604633
HP:0002645HP:0002645Wormian bones0FBLN5 CL E G H1051690349ORPHA0231423602604580
HP:0002645HP:0002645Wormian bones0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0002645HP:0002645Wormian bones0LRP5 CL E G H40412788ORPHA02214116697603506
HP:0002645HP:0002645Wormian bones0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM0241508804173410
HP:0002645HP:0002645Wormian bones0SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0002645HP:0002645Wormian bones0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM042518345611357


Genes (46) :ALDH18A1 ARID2 ATP6V0A2 ATP7A BCL11B BMP1 CHD4 COL1A1 COL1A2 CRTAP CTSK DDRGK1 EFEMP2 ESCO2 FBLN5 FGFR3 FKBP10 FLNA GORAB HPGD HSPG2 IFITM5 KIF1A LMNA LRP5 NOTCH2 NOTCH3 P3H1 P4HB PAM16 PDGFRB PLOD2 PPIB RETREG1 RUNX2 SCN9A SEC24D SETBP1 SH3PXD2B SP7 TAPT1 TENT5A THRA TNXB WNK1 ZMPSTE24

Diseases (55) :616603 219150 617808 2834 278250 565 309400 617237 614856 617159 166200 259420 166220 166210 617821 610682 763 265800 93352 90349 269000 15 2771 610968 304120 231070 259100 800 610967 970 90153 248370 2788 955 102500 2789 130720 610915 2050 613320 601812 609220 259440 1452 119600 616294 798 269150 249420 613849 616897 617952 614450 285 608612
 

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