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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:Hyperpigmentation
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Accession:DOID:9003984 term browser browse the term
Definition:Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Synonyms:exact_synonym: Hypermelanoses;   Hypermelanosis
 primary_id: MESH:D017495
 xref: EFO:0009047


show annotations for term's descendants           Sort by:
Hyperpigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28029781 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Hyperpigmentation ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Hyperpigmentation ClinVar PMID:25741868 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Hyperpigmentation ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:163,539,732...163,542,771 JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
acanthosis nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
ClinVar Annotator: match by term: Acanthosis nigricans
DNA:mutation:cds:p.K650M(human)		 ClinVar
RGD		 PMID:11055896 PMID:11314002 PMID:16912704 PMID:17875876 PMID:18000903 More... RGD:11568026, RGD:11568054 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:28492532 PMID:29751792 PMID:31464584 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:11436180 RGD:1642802 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS		 ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
OMIM:123790
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568032 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis		 OMIM
CTD
ClinVar		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
Dowling-Degos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
G Poglut1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
Dowling-Degos Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Dowling-Degos disease 1 OMIM
ClinVar		 PMID:3188604 PMID:7520042 PMID:8807337 PMID:14674915 PMID:16465624 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 2 OMIM
ClinVar		 PMID:23684010 PMID:25229252 PMID:25741868 PMID:28492532 PMID:31566882 NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poglut1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 4 OMIM
ClinVar		 PMID:20664185 PMID:21971768 PMID:24387993 PMID:25741868 PMID:27479915 More... NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
familial progressive hyperpigmentation with or without hypopigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive		 OMIM
CTD
ClinVar		 PMID:15040480 PMID:15551335 PMID:19375057 PMID:21368769 PMID:24033266 More... NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Lentigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:dermis: RGD PMID:20662835 RGD:8548653 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:30721697 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
Noonan syndrome with multiple lentigines term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17366577 PMID:24033266 PMID:24719372 PMID:28492532 PMID:30773290 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Cardio-cutaneous syndrome ClinVar PMID:28069640 NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines		 CTD
ClinVar
MouseDO
RGD		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... RGD:11070277 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines		 CTD
ClinVar		 PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:exons:p.Y279C, p.T468M (human)
ClinVar Annotator: match by term: LEOPARD syndrome 1
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.Y279S, p.Q510P (human)		 ClinVar
OMIM
RGD		 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:4746100 More... RGD:1601571, RGD:11062587, RGD:11062391 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkrn2 makorin, ring finger protein, 2 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Tmem40 transmembrane protein 40 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar NCBI chr 4:148,791,509...148,819,287
Ensembl chr 4:148,791,505...148,823,665 		JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 PMID:14749708 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Peutz-Jeghers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656 		JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17934846 NCBI chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO
ISS		 ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome
OMIM:175200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9399902 PMID:9425897 PMID:9428765 PMID:9536098 PMID:9731485 More... RGD:1600691 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070 		JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura ClinVar
OMIM		 PMID:23666529 PMID:25741868 PMID:28492532 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        pigmentation disease 278
          Hyperpigmentation 50
            Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
            Dowling-Degos disease + 4
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hyperpigmentation of Fuldauer and Kuijpers 0
            Melanosis + 40
            Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
            Patterson Pseudoleprechaunism Syndrome 0
            dermatopathia pigmentosa reticularis 1
            familial progressive hyperpigmentation with or without hypopigmentation 1
            hyperpigmentation of eyelid 0
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              pigmentation disease 278
                Hyperpigmentation 50
                  Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
                  Dowling-Degos disease + 4
                  Hyperkeratosis-Hyperpigmentation Syndrome 0
                  Hyperpigmentation of Fuldauer and Kuijpers 0
                  Melanosis + 40
                  Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
                  Patterson Pseudoleprechaunism Syndrome 0
                  dermatopathia pigmentosa reticularis 1
                  familial progressive hyperpigmentation with or without hypopigmentation 1
                  hyperpigmentation of eyelid 0
paths to the root