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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


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:28492532 PMID:33026150 PMID:36751037 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 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303 		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:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... 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 chr13:29,946,882...30,163,589
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
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		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:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 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 Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24194475 PMID:35614220 NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012 		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:12368912 PMID:16606917 PMID:25741868 PMID:28492532 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:2010091 PMID:10802654 PMID:11505339 PMID:25741868 NCBI chr 9:21,786,251...21,816,054
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barber-Say syndrome		 OMIM
CTD
ClinVar		 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
De Hauwere syndrome 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: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		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 OMIM 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
OMIM		 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
ISS		 OMIM:613456
ClinVar Annotator: match by term: Frontonasal dysplasia 3		 OMIM
MouseDO
ClinVar		 PMID:20451171 PMID:24467814 PMID:25741868 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hamamy syndrome		 OMIM
CTD
ClinVar		 PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 PMID:34899143 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
hyperphosphatasia with impaired intellectual development 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 intellectual disability 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 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 Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability 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 DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME		 OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 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 PMID:25741868 PMID:38177409 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 OMIM
ClinVar		 PMID:25741868 PMID:30122539 PMID:38177409 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 term: Marles syndrome
DNA:mutation:splice junction:
DNA:deletion,frameshift,missense mutations:exons,cds:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:11332973 PMID:17352387 PMID:17576681 PMID:19732862 More... RGD:11070482, RGD:11070482 NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
ISS		 OMIM:300000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I		 OMIM
MouseDO
CTD
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
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: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple		 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 ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8818947 PMID:18297069 PMID:25741868 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
Teebi hypertelorism syndrome 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: Teebi hypertelorism syndrome ClinVar 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
Teebi hypertelorism syndrome 1 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-Frias syndrome 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
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO
ISS		 ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1
OMIM:145420
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 More... NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 ClinVar
OMIM		 PMID:33811546 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        Musculoskeletal Abnormalities 3302
          Craniofacial Abnormalities 2657
            Hypertelorism 58
              Acrootoocular Syndrome 0
              Bagatelle Cassidy Syndrome 0
              Barber-Say syndrome 1
              Camptodactyly Syndrome Guadalajara Type 2 0
              Camptodactyly Syndrome Guadalajara Type 3 0
              De Hauwere Leroy Adriaenssens syndrome 0
              De Hauwere syndrome 2
              Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
              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
              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 1
              Roberts syndrome 1
              Santos Mateus Leal Syndrome 0
              Schwartz-Lelek Syndrome 1
              Seaver Cassidy Syndrome 0
              Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 0
              Teebi hypertelorism syndrome + 3
              chromosome 6pter-p24 deletion syndrome 0
              frontonasal dysplasia 1 1
              frontonasal dysplasia 2 1
              frontonasal dysplasia 3 1
              hyperphosphatasia with impaired intellectual development syndrome 1 5
              syndactyly-telecanthus-anogenital and renal malformations syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Hypertelorism 58
                Acrootoocular Syndrome 0
                Bagatelle Cassidy Syndrome 0
                Barber-Say syndrome 1
                Camptodactyly Syndrome Guadalajara Type 2 0
                Camptodactyly Syndrome Guadalajara Type 3 0
                De Hauwere Leroy Adriaenssens syndrome 0
                De Hauwere syndrome 2
                Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                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
                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 1
                Roberts syndrome 1
                Santos Mateus Leal Syndrome 0
                Schwartz-Lelek Syndrome 1
                Seaver Cassidy Syndrome 0
                Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 0
                Teebi hypertelorism syndrome + 3
                chromosome 6pter-p24 deletion syndrome 0
                frontonasal dysplasia 1 1
                frontonasal dysplasia 2 1
                frontonasal dysplasia 3 1
                hyperphosphatasia with impaired intellectual development syndrome 1 5
                syndactyly-telecanthus-anogenital and renal malformations syndrome 1
paths to the root