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 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 Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 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
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 Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:7240710
RGD:8554872
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility 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
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 Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662399
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
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 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        Musculoskeletal Abnormalities 1196
          Craniofacial Abnormalities 953
            Hypertelorism 36
              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
              Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
              Hyperphosphatasia with Mental Retardation Syndrome 1 2
              Hypertelorism and Tetralogy of Fallot 0
              Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility 1
              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 3
              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 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Craniofacial Abnormalities 953
              Hypertelorism 36
                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
                Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                Hyperphosphatasia with Mental Retardation Syndrome 1 2
                Hypertelorism and Tetralogy of Fallot 0
                Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility 1
                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 3
                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.