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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypertelorism
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Accession:DOID:9003133 term browser browse the term
Definition:Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Synonyms:exact_synonym: Hypertelorisms
 primary_id: MESH:D006972;   RDO:0000897
For additional species annotation, visit the Alliance of Genome Resources.


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Hypertelorism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Efnb1 ephrin B1 JBrowse link X 68,891,227 68,904,034 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:12904051
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:8554872
G Mllt1 MLLT1, super elongation complex subunit JBrowse link 9 10,110,389 10,155,305 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Myh10 myosin heavy chain 10 JBrowse link 10 55,274,910 55,406,738 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tfap2b transcription factor AP-2 beta JBrowse link 9 25,410,669 25,440,568 RGD:8554872
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Brachycephalofrontonasal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:8554872
Frontonasal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx3 ALX homeobox 3 JBrowse link 2 210,376,510 210,386,928 RGD:7240710
RGD:8554872
Frontonasal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:7240710
RGD:8554872
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
Hamamy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irx5 iroquois homeobox 5 JBrowse link 19 16,415,813 16,421,088 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B JBrowse link 8 79,691,407 79,715,284 RGD:8554872
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G JBrowse link 14 2,410,339 2,438,630 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:7240710
RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnk cyclin K JBrowse link 6 132,090,235 132,113,560 RGD:8554872
RGD:7240710
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:7240710
RGD:8554872
RGD:11070482
RGD:11554173
Opitz GBBB Syndrome, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:7240710
RGD:8554872
Opitz GBBB Syndrome, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
Opitz-GBBB syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:13592920
RGD:8554872
Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 JBrowse link 15 42,500,929 42,519,019 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11535978
RGD:11535977
Schwartz-Lelek Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662399
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnq cyclin Q JBrowse link 10 66,019,519 66,020,682 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      musculoskeletal system disease 4321
        Musculoskeletal Abnormalities 1340
          Craniofacial Abnormalities 1063
            Hypertelorism 40
              Acrootoocular Syndrome 0
              Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
              Bagatelle Cassidy syndrome 0
              Barber-Say syndrome 1
              Brachycephalofrontonasal Dysplasia 1
              Camptodactyly Syndrome, Guadalajara, Type II 0
              Camptodactyly Syndrome, Guadalajara, Type III 0
              De Hauwere Leroy Adriaenssens syndrome 0
              De Hauwere syndrome 0
              Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
              Frontonasal Dysplasia 1 1
              Frontonasal Dysplasia 2 1
              Frontonasal Dysplasia 3 1
              Gastrocutaneous Syndrome 0
              Gillessen-Kaesbach-Nishimura Dysplasia 1
              HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
              Hamamy Syndrome 1
              Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
              Hyperphosphatasia with Mental Retardation Syndrome 1 4
              Hypertelorism and Tetralogy of Fallot 0
              Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
              Krauss Herman Holmes Syndrome 0
              Marles Greenberg Persaud Syndrome 1
              Naguib-Richieri-Costa Syndrome 0
              Opitz-GBBB syndrome + 2
              Roberts syndrome 1
              Santos Mateus Leal Syndrome 0
              Schwartz-Lelek Syndrome 1
              Seaver Cassidy Syndrome 0
              Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 1
              chromosome 6pter-p24 deletion syndrome 0
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        Congenital Abnormalities 3731
          Musculoskeletal Abnormalities 1340
            Craniofacial Abnormalities 1063
              Hypertelorism 40
                Acrootoocular Syndrome 0
                Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
                Bagatelle Cassidy syndrome 0
                Barber-Say syndrome 1
                Brachycephalofrontonasal Dysplasia 1
                Camptodactyly Syndrome, Guadalajara, Type II 0
                Camptodactyly Syndrome, Guadalajara, Type III 0
                De Hauwere Leroy Adriaenssens syndrome 0
                De Hauwere syndrome 0
                Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                Frontonasal Dysplasia 1 1
                Frontonasal Dysplasia 2 1
                Frontonasal Dysplasia 3 1
                Gastrocutaneous Syndrome 0
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
                Hamamy Syndrome 1
                Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                Hyperphosphatasia with Mental Retardation Syndrome 1 4
                Hypertelorism and Tetralogy of Fallot 0
                Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
                Krauss Herman Holmes Syndrome 0
                Marles Greenberg Persaud Syndrome 1
                Naguib-Richieri-Costa Syndrome 0
                Opitz-GBBB syndrome + 2
                Roberts syndrome 1
                Santos Mateus Leal Syndrome 0
                Schwartz-Lelek Syndrome 1
                Seaver Cassidy Syndrome 0
                Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 1
                chromosome 6pter-p24 deletion syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.