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ONTOLOGY REPORT - ANNOTATIONS


Term:ectodermal dysplasia
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Accession:DOID:2121 term browser browse the term
Definition:A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Synonyms:exact_synonym: ACC;   Anhidrotics, Ectodermal Dysplasia;   Anhydrotic Ectodermal Dysplasia;   Aplasia Cutis Congenita;   Aplasia Cutis Congenita, Nonsyndromic;   CONGENITAL DEFECT OF SKULL AND SCALP;   Congenital Ectodermal Defect;   Congenital Ectodermal Defects;   Congenital ectodermal defect (disorder);   Congenital ectodermal dysplasia;   Ectodermal Dysplasias;   Hidrotic Ectodermal Dysplasia;   anhidrotic ectodermal dysplasia;   anhidrotic ectodermal dysplasias;   anhydrotic ectodermal dysplasias;   hidrotic ectodermal dysplasias;   hydrotic ectodermal dysplasia;   hydrotic ectodermal dysplasias
 narrow_synonym: HYPOHIDROTIC ECTODERMAL DYSPLASIA, DOMINANT;   HYPOHIDROTIC ECTODERMAL DYSPLASIA, RECESSIVE
 primary_id: MESH:D004476
 alt_id: DOID:9005687;   OMIA:000323;   OMIM:107600
 xref: GARD:6317;   OMIM:PS305100;   ORDO:79373
For additional species annotation, visit the Alliance of Genome Resources.


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ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:8554872
G Bms1 BMS1 ribosome biogenesis factor JBrowse link 4 150,433,567 150,471,783 RGD:8554872
RGD:7240710
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:1599828
RGD:8554872
RGD:11554173
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:11554173
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:1600184
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:1600184
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Pkp1 plakophilin 1 JBrowse link 13 52,705,174 52,753,089 RGD:1599084
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11568633
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:8554872
RGD:11554173
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:11554173
RGD:8554872
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:8554872
RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:11554173
Adams-Oliver Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:7240710
RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camsap1 calmodulin regulated spectrin-associated protein 1 JBrowse link 3 3,373,971 3,434,027 RGD:8554872
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:8554872
G Dnlz DNL-type zinc finger JBrowse link 3 3,796,480 3,798,467 RGD:8554872
G Entr1 endosome associated trafficking regulator 1 JBrowse link 3 3,827,498 3,834,219 RGD:8554872
G Gpsm1 G-protein signaling modulator 1 JBrowse link 3 3,767,394 3,794,360 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Nacc2 NACC family member 2 JBrowse link 3 3,508,084 3,574,787 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:7240710
RGD:8554872
G Pmpca peptidase, mitochondrial processing subunit alpha JBrowse link 3 3,834,262 3,842,061 RGD:8554872
G Qsox2 quiescin sulfhydryl oxidase 2 JBrowse link 3 3,662,324 3,691,972 RGD:8554872
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor JBrowse link 3 3,856,218 3,890,785 RGD:8554872
G Snapc4 small nuclear RNA activating complex, polypeptide 4 JBrowse link 3 3,808,596 3,827,425 RGD:8554872
G Tmem250 transmembrane protein 250 JBrowse link 3 3,590,783 3,594,475 RGD:8554872
G Ubac1 UBA domain containing 1 JBrowse link 3 3,453,396 3,476,242 RGD:8554872
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:7240710
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
Anhidrotic Ectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:1598881
RGD:8554872
RGD:7240710
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:7240710
RGD:8554872
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
RGD:7240710
G Nlrp5 NLR family, pyrin domain containing 5 JBrowse link 1 71,452,184 71,490,915 RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:8554872
RGD:7240710
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:1600471
RGD:8554872
RGD:11352608
RGD:11567236
RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:7240710
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:7240710
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:7240710
RGD:8554872
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:7240710
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:7240710
RGD:11554173
RGD:8554872
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:8554872
RGD:7240710
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkd1 protein kinase D1 JBrowse link 6 71,035,017 71,349,531 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11552606
dermatopathia pigmentosa reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:7240710
RGD:8554872
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdf1 keratinocyte differentiation factor 1 JBrowse link 5 151,740,902 151,752,863 RGD:8554872
RGD:7240710
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kremen1 kringle containing transmembrane protein 1 JBrowse link 14 85,441,209 85,503,661 RGD:8554872
RGD:7240710
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tspear thrombospondin-type laminin G domain and EAR repeats JBrowse link 20 11,501,510 11,529,210 RGD:8554872
RGD:7240710
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:1598883
RGD:8554872
RGD:7240710
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
RGD:11554173
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 7 144,531,814 144,538,298 RGD:11554173
G Krt85 keratin 85 JBrowse link 7 143,160,480 143,167,828 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 7 144,531,814 144,538,298 RGD:7240710
RGD:8554872
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Pkp1 plakophilin 1 JBrowse link 13 52,705,174 52,753,089 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin4 nectin cell adhesion molecule 4 JBrowse link 13 89,755,665 89,774,185 RGD:7240710
RGD:8554872
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
RGD:7240710
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:1600403
RGD:8554872
RGD:11532814
RGD:11568642
RGD:11568640
RGD:7240710
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
RGD:11568074
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:1302823
RGD:8554872
RGD:7240710
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:1600212
RGD:8554872
RGD:7240710
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:11073852
RGD:8554872
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:11554173
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Porcn porcupine O-acyltransferase JBrowse link X 15,035,569 15,048,440 RGD:7240710
RGD:8554872
RGD:11554173
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:11554173
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:7240710
RGD:8554872
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:8554872
RGD:14398763
RGD:13592920
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:13592920
RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:13592920
RGD:14398762
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:13592920
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Traf6 TNF receptor associated factor 6 JBrowse link 3 91,252,829 91,271,607 RGD:13592920
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc138 coiled-coil domain containing 138 JBrowse link 20 28,076,784 28,158,053 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:7240710
RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
RGD:11554173
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 3 112,800,557 112,910,038 RGD:7240710
RGD:8554872
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Itga6 integrin subunit alpha 6 JBrowse link 3 58,442,904 58,515,124 RGD:7240710
RGD:8554872
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
RGD:11554173
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:8554872
RGD:11554173
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:7240710
RGD:8554872
RGD:11554173
linear nevus sebaceous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:7240710
RGD:8554872
RGD:11098548
RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Linear Skin Defects with Multiple Congenital Anomalies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:7240710
RGD:8554872
Marshall syndrome 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:1600881
RGD:8554872
RGD:11554173
RGD:7240710
Marshall/Stickler Syndrome 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
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
RGD:11554173
neurilemmomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Derl3 derlin 3 JBrowse link 20 13,692,102 13,707,645 RGD:8554872
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
RGD:7240710
RGD:11554173
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:7240710
RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
RGD:11554173
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Neurocutaneous Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13439711
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:2317722
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:11554173
neurofibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:11554173
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:13592920
neurofibromatosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483542
G Evi2a ecotropic viral integration site 2A JBrowse link 10 66,870,048 66,873,948 RGD:8554872
G Evi2b ecotropic viral integration site 2B JBrowse link 10 66,856,980 66,858,598 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:1302540
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1580933
G Omg oligodendrocyte-myelin glycoprotein JBrowse link 10 66,845,654 66,848,388 RGD:8554872
G Spred1 sprouty-related, EVH1 domain containing 1 JBrowse link 3 108,795,337 108,861,650 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547970
neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:7240710
RGD:8554872
RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547955
RGD:8547957
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872
Neurofibromatosis-Noonan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872
Odontoonychodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:7240710
RGD:8554872
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951
orofacial cleft 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:8554872
pachyonychia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:11554173
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:11554173
RGD:8554872
Pachyonychia Congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
RGD:8554872
Pachyonychia Congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:7240710
RGD:8554872
palmoplantar keratoderma and congenital alopecia 1 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:7240710
Papillon-Lefevre disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:1599638
RGD:8554872
RGD:11554173
RGD:7240710
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7246919
RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
Rapp-Hodgkin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:11554173
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
Sensenbrenner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:11554173
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
RGD:11554173
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase JBrowse link 4 147,744,673 147,756,462 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
RGD:11554173
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
Steatocystoma Multiplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:7240710
RGD:8554872
Sturge-Weber Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnh cyclin H JBrowse link 2 13,593,100 13,613,910 RGD:8554872
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:1358624
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:7240710
RGD:8554872
RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204823
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204823
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:8554872
tuberous sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068443
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 JBrowse link 16 68,954,860 68,968,248 RGD:1549429
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11565117
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547829
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:1624196
RGD:8554872
RGD:11073512
RGD:11570511
RGD:11062248
RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
RGD:11062248
RGD:11568672
RGD:11554173
tuberous sclerosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:8554872
G Spaca9 sperm acrosome associated 9 JBrowse link 3 7,269,851 7,279,253 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
RGD:11570507
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
tuberous sclerosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antkmt adenine nucleotide translocase lysine methyltransferase JBrowse link 10 15,160,037 15,161,895 RGD:8554872
G Baiap3 BAI1-associated protein 3 JBrowse link 10 14,601,133 14,613,881 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Ccdc154 coiled-coil domain containing 154 JBrowse link 10 14,518,240 14,529,920 RGD:8554872
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:8554872
G Chtf18 chromosome transmission fidelity factor 18 JBrowse link 10 15,090,762 15,098,825 RGD:8554872
G Ciao3 cytosolic iron-sulfur assembly component 3 JBrowse link 10 15,143,732 15,152,706 RGD:8554872
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:8554872
G Cramp1 cramped chromatin regulator homolog 1 JBrowse link 10 14,324,799 14,373,413 RGD:8554872
G Eme2 essential meiotic structure-specific endonuclease subunit 2 JBrowse link 10 14,253,552 14,257,017 RGD:8554872
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 JBrowse link 10 14,214,518 14,215,957 RGD:8554872
G Fbxl16 F-box and leucine-rich repeat protein 16 JBrowse link 10 15,176,489 15,188,729 RGD:8554872
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:8554872
G Gng13 G protein subunit gamma 13 JBrowse link 10 15,088,935 15,090,839 RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:8554872
G Hagh hydroxyacyl glutathione hydrolase JBrowse link 10 14,215,913 14,230,506 RGD:8554872
G Haghl hydroxyacylglutathione hydrolase-like JBrowse link 10 15,152,736 15,157,221 RGD:8554872
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 JBrowse link 10 14,122,856 14,128,984 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7240710
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:8554872
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Jpt2 Jupiter microtubule associated homolog 2 JBrowse link 10 14,304,108 14,324,170 RGD:8554872
G Lmf1 lipase maturation factor 1 JBrowse link 10 14,945,185 15,031,855 RGD:8554872
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 JBrowse link 10 14,259,394 14,299,276 RGD:8554872
G Mcrip2 MAPK regulated co-repressor interacting protein 2 JBrowse link 10 15,230,801 15,235,740 RGD:8554872
G Meiob meiosis specific with OB-fold JBrowse link 10 14,174,645 14,206,026 RGD:8554872
G Metrn meteorin, glial cell differentiation regulator JBrowse link 10 15,164,439 15,166,457 RGD:8554872
G Mettl26 methyltransferase like 26 JBrowse link 10 15,239,753 15,255,054 RGD:8554872
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
G Msln mesothelin JBrowse link 10 15,119,700 15,129,129 RGD:8554872
G Msrb1 methionine sulfoxide reductase B1 JBrowse link 10 14,105,750 14,111,463 RGD:8554872
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 JBrowse link 10 14,090,128 14,092,289 RGD:8554872
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 JBrowse link 10 14,258,232 14,259,365 RGD:8554872
G Noxo1 NADPH oxidase organizer 1 JBrowse link 10 14,062,331 14,066,918 RGD:8554872
G Npw neuropeptide W JBrowse link 10 14,021,187 14,022,452 RGD:8554872
G Nthl1 nth-like DNA glycosylase 1 JBrowse link 10 13,996,660 14,002,827 RGD:8554872
G Nubp2 nucleotide binding protein 2 JBrowse link 10 14,244,201 14,247,930 RGD:8554872
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q JBrowse link 10 15,289,530 15,305,593 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Ptx4 pentraxin 4 JBrowse link 10 14,481,044 14,486,277 RGD:8554872
G Rab40c Rab40c, member RAS oncogene family JBrowse link 10 15,247,913 15,283,111 RGD:8554872
G RGD1565784 RGD1565784 JBrowse link 10 14,543,196 14,544,498 RGD:8554872
G Rhbdl1 rhomboid like 1 JBrowse link 10 15,201,503 15,205,856 RGD:8554872
G Rhot2 ras homolog family member T2 JBrowse link 10 15,205,943 15,211,739 RGD:8554872
G Rnf151 ring finger protein 151 JBrowse link 10 14,083,538 14,088,011 RGD:8554872
G Rpl3l ribosomal protein L3-like JBrowse link 10 14,094,769 14,105,312 RGD:8554872
G Rps2 ribosomal protein S2 JBrowse link 10 14,088,171 14,090,020 RGD:8554872
G Rpusd1 RNA pseudouridine synthase domain containing 1 JBrowse link 10 15,099,104 15,102,968 RGD:8554872
G Slc9a3r2 SLC9A3 regulator 2 JBrowse link 10 14,003,330 14,015,066 RGD:8554872
G Sox8 SRY-box transcription factor 8 JBrowse link 10 14,932,348 14,937,336 RGD:8554872
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 JBrowse link 10 14,248,199 14,253,815 RGD:8554872
G Sstr5 somatostatin receptor 5 JBrowse link 10 14,847,749 14,853,827 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
G Syngr3 synaptogyrin 3 JBrowse link 10 14,051,413 14,056,169 RGD:8554872
G Tbl3 transducin (beta)-like 3 JBrowse link 10 14,066,984 14,072,197 RGD:8554872
G Telo2 telomere maintenance 2 JBrowse link 10 14,461,581 14,476,812 RGD:8554872
G Tmem204 transmembrane protein 204 JBrowse link 10 14,417,608 14,446,272 RGD:8554872
G Tpsab1 tryptase alpha/beta 1 JBrowse link 10 14,701,253 14,703,668 RGD:8554872
G Tpsb2 tryptase beta 2 JBrowse link 10 14,722,672 14,724,464 RGD:8554872
G Tpsg1 tryptase gamma 1 JBrowse link 10 14,724,531 14,731,259 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:7240710
RGD:8554872
RGD:11554173
G Tsr3 TSR3 ribosome maturation factor JBrowse link 10 14,598,014 14,600,576 RGD:8554872
G Ube2i ubiquitin-conjugating enzyme E2I JBrowse link 10 14,618,615 14,639,274 RGD:8554872
G Unkl unk like zinc finger JBrowse link 10 14,547,126 14,593,090 RGD:8554872
G Wdr24 WD repeat domain 24 JBrowse link 10 15,191,078 15,195,860 RGD:8554872
G Wdr90 WD repeat domain 90 JBrowse link 10 15,211,660 15,229,477 RGD:8554872
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 JBrowse link 10 15,243,429 15,245,757 RGD:8554872
G Zfp598 zinc finger protein 598 JBrowse link 10 14,035,114 14,047,100 RGD:8554872
von Hippel-Lindau disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:7240710
RGD:8554872
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:11041600
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241233
G Slc18a1 solute carrier family 18 member A1 JBrowse link 16 22,358,646 22,395,183 RGD:5131200
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:7240710
RGD:8554872
RGD:11554173
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872
Worster Drought Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 JBrowse link 15 109,338,762 109,394,905 RGD:8554872
Yunis-Varon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
G Vac14 VAC14 component of PIKFYVE complex JBrowse link 19 40,927,007 41,029,206 RGD:8554872
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      ectodermal dysplasia 251
        ADULT syndrome 1
        AREDYLD Syndrome 0
        Adams-Oliver syndrome + 21
        Alves Castelo dos Santos Syndrome 0
        Anal Sphincter Dysplasia 0
        Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema 2
        Aplasia Cutis Congenita of Limbs Recessive 0
        Aplasia Cutis Congenita with Epibulbar Dermoids 3
        Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
        Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
        Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
        Arthrogryposis and Ectodermal Dysplasia 0
        Basan Syndrome 1
        Bresheck/Bresek Syndrome 0
        Brunoni Syndrome 0
        CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
        Cerebellar Ataxia Ectodermal Dysplasia 0
        Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
        Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 0
        Clouston syndrome 1
        Congenital Ectodermal Dysplasia with Hearing Loss 0
        Deafness with Anhidrotic Ectodermal Dysplasia 0
        Dermatoosteolysis Kirghizian Type 0
        ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE 1
        ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE 1
        ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 1
        ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
        EEC syndrome + 1
        Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant 1
        Ectodermal Dysplasia 4, Hair/Nail Type 2
        Ectodermal Dysplasia 7, Hair/Nail Type 0
        Ectodermal Dysplasia 9, Hair/Nail Type 1
        Ectodermal Dysplasia Adrenal Cyst 0
        Ectodermal Dysplasia Mental Retardation Syndactyly 0
        Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
        Ectodermal Dysplasia and Neurosensory Deafness 0
        Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 0
        Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
        Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 1
        Ectodermal Dysplasia, Pure Hair-Nail Type 0
        Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
        Ectodermal Dysplasia, Trichoodontoonychial Type 0
        Ectodermal Dysplasia-Skin Fragility Syndrome 2
        Ectodermal Dysplasia-Syndactyly Syndrome + 1
        Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
        Ellis-Van Creveld syndrome + 11
        Euhidrotic Ectodermal Dysplasia 0
        Freire-Maia Odontotrichomelic Syndrome 0
        Halal Setton Wang Syndrome 0
        Hay Wells Syndrome Recessive Type 0
        Hidrotic Ectodermal Dysplasia, Autosomal Recessive 0
        Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 0
        Johanson-Blizzard syndrome 1
        Jones Hersh Yusk Syndrome 0
        Ladda Zonana Ramer syndrome 0
        Lelis Syndrome 0
        Linear Skin Defects with Multiple Congenital Anomalies 2 1
        Marshall syndrome + 1
        NEMO Mutation with Immunodeficiency 0
        Naegeli-Franceschetti-Jadassohn syndrome 1
        Neurocutaneous Syndromes + 126
        Odontomicronychial Dysplasia 0
        Odontoonychodermal Dysplasia 1
        Odontotrichoungual-Digital-Palmar Syndrome 0
        Ohdo syndrome + 3
        Papillon-Lefevre disease + 1
        Photosensitive Trichothiodystrophy 1 3
        Pinheiro Freire-Maia Miranda Syndrome 0
        Rapp-Hodgkin syndrome 1
        Robinson Miller Bensimon Syndrome 0
        Rosselli-Gulienetti Syndrome 0
        Sener Syndrome 0
        Sensenbrenner syndrome + 8
        Seres-Santamaria Arimany Muniz Syndrome 0
        Taurodontia Absent Teeth Sparse Hair 0
        Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
        Trichodental Syndrome 0
        Trichoodontoonychial Dysplasia 0
        Trichoscyphodysplasia 0
        Trueb Burg Bottani Syndrome 0
        Yunis-Varon syndrome 2
        ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
        cardiofaciocutaneous syndrome + 8
        cleft lip-palate-ectodermal dysplasia syndrome 1
        dermatopathia pigmentosa reticularis 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
        focal dermal hypoplasia + 4
        hypohidrotic ectodermal dysplasia + 13
        junctional epidermolysis bullosa with pyloric atresia 31
        orofacial cleft 7 + 1
        pachyonychia congenita + 2
        palmoplantar keratoderma and congenital alopecia 1 1
        palmoplantar keratoderma and congenital alopecia 2 0
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          skin disease 2464
            Genetic Skin Diseases 760
              ectodermal dysplasia 251
                ADULT syndrome 1
                AREDYLD Syndrome 0
                Adams-Oliver syndrome + 21
                Alves Castelo dos Santos Syndrome 0
                Anal Sphincter Dysplasia 0
                Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema 2
                Aplasia Cutis Congenita of Limbs Recessive 0
                Aplasia Cutis Congenita with Epibulbar Dermoids 3
                Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
                Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
                Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                Arthrogryposis and Ectodermal Dysplasia 0
                Basan Syndrome 1
                Bresheck/Bresek Syndrome 0
                Brunoni Syndrome 0
                CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
                Cerebellar Ataxia Ectodermal Dysplasia 0
                Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
                Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 0
                Clouston syndrome 1
                Congenital Ectodermal Dysplasia with Hearing Loss 0
                Deafness with Anhidrotic Ectodermal Dysplasia 0
                Dermatoosteolysis Kirghizian Type 0
                ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE 1
                ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE 1
                ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 1
                ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
                EEC syndrome + 1
                Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant 1
                Ectodermal Dysplasia 4, Hair/Nail Type 2
                Ectodermal Dysplasia 7, Hair/Nail Type 0
                Ectodermal Dysplasia 9, Hair/Nail Type 1
                Ectodermal Dysplasia Adrenal Cyst 0
                Ectodermal Dysplasia Mental Retardation Syndactyly 0
                Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                Ectodermal Dysplasia and Neurosensory Deafness 0
                Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 0
                Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 1
                Ectodermal Dysplasia, Pure Hair-Nail Type 0
                Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
                Ectodermal Dysplasia, Trichoodontoonychial Type 0
                Ectodermal Dysplasia-Skin Fragility Syndrome 2
                Ectodermal Dysplasia-Syndactyly Syndrome + 1
                Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
                Ellis-Van Creveld syndrome + 11
                Euhidrotic Ectodermal Dysplasia 0
                Freire-Maia Odontotrichomelic Syndrome 0
                Halal Setton Wang Syndrome 0
                Hay Wells Syndrome Recessive Type 0
                Hidrotic Ectodermal Dysplasia, Autosomal Recessive 0
                Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 0
                Johanson-Blizzard syndrome 1
                Jones Hersh Yusk Syndrome 0
                Ladda Zonana Ramer syndrome 0
                Lelis Syndrome 0
                Linear Skin Defects with Multiple Congenital Anomalies 2 1
                Marshall syndrome + 1
                NEMO Mutation with Immunodeficiency 0
                Naegeli-Franceschetti-Jadassohn syndrome 1
                Neurocutaneous Syndromes + 126
                Odontomicronychial Dysplasia 0
                Odontoonychodermal Dysplasia 1
                Odontotrichoungual-Digital-Palmar Syndrome 0
                Ohdo syndrome + 3
                Papillon-Lefevre disease + 1
                Photosensitive Trichothiodystrophy 1 3
                Pinheiro Freire-Maia Miranda Syndrome 0
                Rapp-Hodgkin syndrome 1
                Robinson Miller Bensimon Syndrome 0
                Rosselli-Gulienetti Syndrome 0
                Sener Syndrome 0
                Sensenbrenner syndrome + 8
                Seres-Santamaria Arimany Muniz Syndrome 0
                Taurodontia Absent Teeth Sparse Hair 0
                Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                Trichodental Syndrome 0
                Trichoodontoonychial Dysplasia 0
                Trichoscyphodysplasia 0
                Trueb Burg Bottani Syndrome 0
                Yunis-Varon syndrome 2
                ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                cardiofaciocutaneous syndrome + 8
                cleft lip-palate-ectodermal dysplasia syndrome 1
                dermatopathia pigmentosa reticularis 1
                ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
                ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
                focal dermal hypoplasia + 4
                hypohidrotic ectodermal dysplasia + 13
                junctional epidermolysis bullosa with pyloric atresia 31
                orofacial cleft 7 + 1
                pachyonychia congenita + 2
                palmoplantar keratoderma and congenital alopecia 1 1
                palmoplantar keratoderma and congenital alopecia 2 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.