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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 alt_id: OMIM:145400
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Hypertelorism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 PMID:33026150 NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
JBrowse link
G Cemip2 cell migration inducing hyaluronidase 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:8364588 PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:9215670 PMID:11175284 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353
JBrowse link
G Mllt1 MLLT1, super elongation complex subunit ISO ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr 9:1,731,077...1,775,985
Ensembl chr 9:1,731,080...1,775,970
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
Brachycephalofrontonasal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Brachycephalofrontonasal dysplasia
ClinVar Annotator: match by term: Hypertelorism, Teebi type
ClinVar
OMIM
PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
Frontonasal Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 1
ClinVar Annotator: match by OMIM:136760
OMIM
ClinVar
PMID:17963218 PMID:19409524 PMID:25741868 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613451
OMIM
ClinVar
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3
ClinVar Annotator: match by OMIM:613456
OMIM
ClinVar
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
ClinVar
OMIM
PMID:25741868 PMID:25966638 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
Hamamy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Hamamy syndrome
ClinVar Annotator: match by OMIM:611174
OMIM
ClinVar
PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
ClinVar Annotator: match by OMIM:239300
OMIM
ClinVar
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533
JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of Fallot ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc85c coiled-coil domain containing 85C ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies ClinVar NCBI chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371
JBrowse link
G Ccnk cyclin K ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies
ClinVar
OMIM
PMID:25741868 PMID:30122539 NCBI chr 6:127,090,115...127,113,195
Ensembl chr 6:127,090,569...127,113,191
JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Manitoba Trichoanal syndrome
ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome
ClinVar Annotator: match by OMIM:248450
DNA:mutation:splice junction:
DNA:deletion,frameshift,missense mutations:exons,cds:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 More... RGD:11070482, RGD:11070482 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
ClinVar
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353
JBrowse link
Opitz GBBB syndrome type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type II OMIM
ClinVar
PMID:3228142 PMID:25412741 PMID:25741868 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
Opitz-GBBB syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISS
ISO
OMIM:145410 | OMIM:300000
ClinVar Annotator: match by term: TELECANTHUS-HYPOSPADIAS SYNDROME
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353
JBrowse link
Roberts syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
ClinVar Annotator: match by OMIM:269000
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
ClinVar Annotator: match by OMIM:268300
OMIM
ClinVar
CTD
RGD
PMID:495649 PMID:1642282 PMID:3740099 PMID:15821733 PMID:16199547 More... RGD:11535978, RGD:11535977 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnq cyclin Q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300707
OMIM
CTD
ClinVar
PMID:8818947 PMID:18297069 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        Musculoskeletal Abnormalities 2255
          Craniofacial Abnormalities 1968
            Hypertelorism 44
              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 2 0
              Camptodactyly Syndrome Guadalajara Type 3 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 1
              Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
              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
              chromosome 6pter-p24 deletion syndrome 0
              syndactyly-telecanthus-anogenital and renal malformations syndrome 1
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        Congenital Abnormalities 5651
          Musculoskeletal Abnormalities 2255
            Craniofacial Abnormalities 1968
              Hypertelorism 44
                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 2 0
                Camptodactyly Syndrome Guadalajara Type 3 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 1
                Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
                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
                chromosome 6pter-p24 deletion syndrome 0
                syndactyly-telecanthus-anogenital and renal malformations syndrome 1
paths to the root