ONTOLOGY REPORT - ANNOTATIONS

Term:Craniosynostoses
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Accession:RDO:0000816 term browser browse the term
Definition:Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Synonyms:exact_synonym: Acrocephaly;   Brachycephalies;   Brachycephaly;   CRANIOSTENOSIS SCAPHOCEPHALY;   CRS;   CRS1;   Craniostenoses;   Craniostenosis;   Craniosynostosis;   Craniosynostosis Plagiocephalies;   Craniosynostosis Plagiocephaly;   Craniosynostosis, Type 1;   Lambdoid Synostoses;   Lambdoid Synostosis;   Lambdoidal Craniosynostoses;   Lambdoidal Craniosynostosis;   Metopic Synostoses;   Metopic Synostosis;   Oxycephaly;   Sagittal Synostoses;   Sagittal Synostosis;   Scaphocephalies;   Scaphocephaly;   Synostotic Anterior Plagiocephalies;   Synostotic Anterior Plagiocephaly;   Synostotic Plagiocephalies;   Synostotic Plagiocephaly;   Synostotic Posterior Plagiocephalies;   Synostotic Posterior Plagiocephaly;   Trigonocephalies;   Trigonocephaly;   Unilateral Coronal Synostoses;   Unilateral Coronal Synostosis
 primary_id: MESH:D003398
 alt_id: OMIM:123100

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Craniosynostoses term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fbn1 fibrillin 1 GBrowse link ISS 3 112,608,480 112,804,118 RGD:1601145 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:6480630 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:6480631 RGD
G Msx2 msh homeobox 2 GBrowse link ISS 17 17,243,262 17,248,927 RGD:1600491 RGD
G Nell1 NEL-like 1 (chicken) GBrowse link IPM 1 99,805,922 100,758,002 RGD:633405 RGD
Acrocephalopolysyndactyly Type II term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Rab23 RAB23, member RAS oncogene family GBrowse link ISS 9 32,465,752 32,486,615 RGD:7240710 OMIM
Acrocephalosyndactylia term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:704404 RGD
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:704404 RGD
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
G Twist1 twist basic helix-loop-helix transcription factor 1 GBrowse link ISS 6 52,605,869 52,607,863 RGD:1624353 RGD
G Twist1 twist basic helix-loop-helix transcription factor 1 GBrowse link ISS 6 52,605,869 52,607,863 RGD:7240710 OMIM
Bohring syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Asxl1 additional sex combs like 1 GBrowse link ISS 3 143,703,295 143,767,523 RGD:7240710 OMIM
C SYNDROME term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Cd96 CD96 molecule GBrowse link ISS 11 56,183,593 56,258,568 RGD:7240710 OMIM
Cranioectodermal Dysplasia term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Ift122 intraflagellar transport 122 homolog (Chlamydomonas) GBrowse link ISS 4 151,982,026 152,052,635 RGD:7240710 OMIM
CRANIOECTODERMAL DYSPLASIA 2 term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Wdr35 WD repeat domain 35 GBrowse link ISS 6 32,522,578 32,523,842 RGD:7240710 OMIM
Craniosynostosis radial aplasia syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Recql4 RecQ protein-like 4 GBrowse link ISS 7 114,752,863 114,760,027 RGD:7240710 OMIM
Craniosynostosis, Type 2 term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Msx2 msh homeobox 2 GBrowse link ISS 17 17,243,262 17,248,927 RGD:7240710 OMIM
Cutis Gyrata Syndrome of Beare And Stevenson term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
FRONTONASAL DYSPLASIA 2 term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Alx4 ALX homeobox 4 GBrowse link ISS 3 78,057,714 78,094,285 RGD:7240710 OMIM
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Gli3 GLI family zinc finger 3 GBrowse link ISS 17 57,594,102 57,867,710 RGD:7240710 OMIM
Jackson-Weiss syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Muenke Syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr3 fibroblast growth factor receptor 3 GBrowse link ISS 14 82,683,191 82,697,229 RGD:7240710 OMIM
Pfeiffer type acrocephalosyndactyly term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Scaphocephaly, Maxillary Retrusion, And Mental Retardation term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
TRIGONOCEPHALY 1 term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Fgfr1 Fibroblast growth factor receptor 1 GBrowse link ISS 16 70,869,974 70,910,045 RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30477
    Musculoskeletal Diseases 1854
      Musculoskeletal Abnormalities 364
        Craniofacial Abnormalities 218
          Craniosynostoses 28
            Acrocephalosyndactylia + 10
            Aurocephalosyndactyly 0
            Baraitser Rodeck Garner syndrome 0
            Bohring syndrome 1
            C SYNDROME 1
            Calabro syndrome 0
            Cole Carpenter syndrome 0
            Cranioectodermal Dysplasia + 2
            Craniofacial-Skeletal-Dermatologic Dysplasia 0
            Craniometaphyseal dysplasia, autosomal recessive type 0
            Craniosynostosis Mental Retardation Clefting Syndrome 0
            Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
            Craniosynostosis Syndrome, Autosomal Recessive 0
            Craniosynostosis radial aplasia syndrome 1
            Craniosynostosis with Anomalies of the Cranial Base and Digits 0
            Craniosynostosis with Ectopia Lentis 0
            Craniosynostosis with Fibular Aplasia 0
            Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
            Craniosynostosis, Adelaide Type 0
            Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
            Craniosynostosis, Philadelphia Type 0
            Craniosynostosis, Type 2 1
            Craniosynostosis, anal anomalies, and porokeratosis 0
            Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus 0
            Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
            Craniotelencephalic dysplasia 0
            Cutis Gyrata Syndrome of Beare And Stevenson 1
            FRONTONASAL DYSPLASIA 2 1
            Fine-Lubinsky syndrome 0
            Furlong syndrome 0
            Genoa syndrome 0
            Hordnes Engebretsen Knudtson syndrome 0
            Hunter-McAlpine syndrome 0
            Iida Kannari syndrome 0
            Jackson-Weiss syndrome 2
            Kleeblattschaedel syndrome 0
            LAMBDOID SYNOSTOSIS 0
            Lowry Maclean syndrome 0
            Mehta Lewis Patton syndrome 0
            Muenke Syndrome 1
            Oculopalatoskeletal syndrome 0
            Opitz trigonocephaly syndrome 0
            Pfeiffer Tietze Welte syndrome 0
            Piepkorn Karp Hickok syndrome 0
            Plagiocephaly and X-linked mental retardation 0
            Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia 0
            Scaphocephaly, Maxillary Retrusion, And Mental Retardation 1
            Shprintzen Golberg craniosynostosis 0
            Skeletal dysplasia, San Diego type 0
            Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation 0
            TRIGONOCEPHALY 1 1
            Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
            Trigonocephaly, Nonsyndromic 0
            Warman Mulliken Hayward syndrome 0
Path 2
Term Annotations click to browse term
  Diseases 30477
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3907
      Congenital Abnormalities 1482
        Musculoskeletal Abnormalities 364
          Craniofacial Abnormalities 218
            Plagiocephaly 28
              Craniosynostoses 28
                Acrocephalosyndactylia + 10
                Aurocephalosyndactyly 0
                Baraitser Rodeck Garner syndrome 0
                Bohring syndrome 1
                C SYNDROME 1
                Calabro syndrome 0
                Cole Carpenter syndrome 0
                Cranioectodermal Dysplasia + 2
                Craniofacial-Skeletal-Dermatologic Dysplasia 0
                Craniometaphyseal dysplasia, autosomal recessive type 0
                Craniosynostosis Mental Retardation Clefting Syndrome 0
                Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
                Craniosynostosis Syndrome, Autosomal Recessive 0
                Craniosynostosis radial aplasia syndrome 1
                Craniosynostosis with Anomalies of the Cranial Base and Digits 0
                Craniosynostosis with Ectopia Lentis 0
                Craniosynostosis with Fibular Aplasia 0
                Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
                Craniosynostosis, Adelaide Type 0
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Craniosynostosis, Philadelphia Type 0
                Craniosynostosis, Type 2 1
                Craniosynostosis, anal anomalies, and porokeratosis 0
                Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus 0
                Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
                Craniotelencephalic dysplasia 0
                Cutis Gyrata Syndrome of Beare And Stevenson 1
                FRONTONASAL DYSPLASIA 2 1
                Fine-Lubinsky syndrome 0
                Furlong syndrome 0
                Genoa syndrome 0
                Hordnes Engebretsen Knudtson syndrome 0
                Hunter-McAlpine syndrome 0
                Iida Kannari syndrome 0
                Jackson-Weiss syndrome 2
                Kleeblattschaedel syndrome 0
                LAMBDOID SYNOSTOSIS 0
                Lowry Maclean syndrome 0
                Mehta Lewis Patton syndrome 0
                Muenke Syndrome 1
                Oculopalatoskeletal syndrome 0
                Opitz trigonocephaly syndrome 0
                Pfeiffer Tietze Welte syndrome 0
                Piepkorn Karp Hickok syndrome 0
                Plagiocephaly and X-linked mental retardation 0
                Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia 0
                Scaphocephaly, Maxillary Retrusion, And Mental Retardation 1
                Shprintzen Golberg craniosynostosis 0
                Skeletal dysplasia, San Diego type 0
                Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation 0
                TRIGONOCEPHALY 1 1
                Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                Trigonocephaly, Nonsyndromic 0
                Warman Mulliken Hayward syndrome 0
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