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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:Sex Chromosome Disorders
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Accession:DOID:9004151 term browser browse the term
Definition:Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Synonyms:exact_synonym: Sex Chromosome Abnormality Disorders;   Sex Chromosome Disorder
 primary_id: MESH:D025064



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Chromosome Xq28 Duplication Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
fragile X syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgb androglobin ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190
JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
IMP
ISS
DNA:trinucleotide expansion
ClinVar Annotator: match by term: Fragile X syndrome
OMIM:300624
compared to SD control;DNA:deletion:intron 7, exon 8:
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 More... RGD:1601178, RGD:401976434, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe IMP RGD PMID:28894415 RGD:38501107
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8:
compared to SD control;DNA:deletion:intron 7, exon 8:
RGD PMID:27465362 PMID:36536454 PMID:30877790 RGD:38548926, RGD:401976434, RGD:38548928
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251 PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome
OMIM:300623
human gene in a mouse model
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:25741868 PMID:27385396 PMID:15876460 RGD:12050151 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers 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: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome OMIM
ClinVar
PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 More... NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
Klinefelter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More... NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:20887964 PMID:25741868 PMID:28492532 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
JBrowse link
Mohr Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome II ClinVar PMID:27158779 NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Mohr syndrome ClinVar
OMIM
PMID:25741868 PMID:27530628 PMID:28492532 PMID:29068549 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
JBrowse link
orofaciodigital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997988 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
G Ccdc96 coiled-coil domain containing 96 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr14:74,276,568...74,279,072
Ensembl chr14:74,276,960...74,278,888
JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orofaciodigital syndrome | ClinVar Annotator: match by term: Orofaciodigital syndromes ClinVar PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
orofaciodigital syndrome I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO
ISS
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I
OMIM:311200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:243C>G (H81Q) (human)
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:deletion:exon:c.2183delG (human)
DNA:frameshift mutations, missense mutation, splice-site mutation:multiple
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 More... RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
JBrowse link
orofaciodigital syndrome III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar PMID:27894351 PMID:28492532 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar PMID:25741868 PMID:25869670 PMID:26489029 PMID:28492532 PMID:34354814 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
orofaciodigital syndrome IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Orofacial-digital syndrome IV ClinVar PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G Tctn3 tectonic family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV
OMIM
CTD
ClinVar
PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 More... NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
JBrowse link
orofaciodigital syndrome IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link
orofaciodigital syndrome V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome V
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16278897 PMID:23972372 PMID:25741868 PMID:28492532 PMID:28711741 More... NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214
JBrowse link
Orofaciodigital Syndrome XIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 More... NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
Orofaciodigital Syndrome XIX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX ClinVar PMID:36084634 NCBI chr 2:182,700,883...182,705,119
Ensembl chr 2:182,700,348...182,704,835
JBrowse link
Orofaciodigital Syndrome XV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XV
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28492532 More... NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
JBrowse link
orofaciodigital syndrome XVI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI OMIM
ClinVar
PMID:25741868 PMID:26595381 PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link
orofaciodigital syndrome XVII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII OMIM
ClinVar
PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
JBrowse link
Orofaciodigital Syndrome XVIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift57 intraflagellar transport 57 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 18 OMIM
ClinVar
PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812
JBrowse link
Orofaciodigital Syndrome XX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XX OMIM
ClinVar
PMID:25741868 PMID:37384395 PMID:37619988 NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837 PMID:22278433 RGD:12743588, RGD:12743598 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
X-linked intellectual developmental disorder 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 OMIM
ClinVar
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        Congenital Abnormalities 7591
          chromosomal disease 2732
            Sex Chromosome Disorders 84
              47, XYY Syndrome 0
              49,XXXXX Syndrome 0
              Chromosome Xq Duplication Syndrome 0
              Chromosome Xq27.3-q28 Duplication Syndrome 0
              Chromosome Xq28 Duplication Syndrome 20
              Sex Chromosome Disorders of Sex Development + 26
              fragile X syndrome + 16
              orofaciodigital syndrome + 31
paths to the root