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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:Noonan syndrome with multiple lentigines
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Accession:DOID:14291 term browser browse the term
Definition:A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)
Synonyms:exact_synonym: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome;   Cardiocutaneous syndrome;   Cardiomyopathic Lentiginoses;   Cardiomyopathic Lentiginosis;   Gorlin syndrome II;   LEOPARD Syndromes;   LEOPARD syndrome;   Lentiginosis Cardiomyopathics;   Lentiginosis profusa syndrome;   Moynahan syndrome;   Multiple Lentigines Syndrome;   Multiple Lentigines Syndromes;   cardio cutaneous syndrome;   cardio-cutaneous syndromes;   generalized lentiginosis;   progressive cardiomyopathic lentiginoses;   progressive cardiomyopathic lentiginosis
 primary_id: MESH:D044542
 xref: GARD:1100;   NCI:C84820;   OMIM:PS151100;   ORDO:500
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Noonan syndrome with multiple lentigines term browser
Symbol Object Name 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
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines		 ClinVar PMID:17704260, PMID:18042262, PMID:19206169, PMID:19416762, PMID:22190897, PMID:23763990, PMID:24033266, PMID:25741868, PMID:28404629, PMID:28492532, PMID:30820351 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206 		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 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489 		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 1:80,271,288...80,290,946
Ensembl chr 1:80,279,706...80,290,408 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:exons:p.Y279C, p.T468M (human)
ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines
ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME
ClinVar Annotator: match by term: LEOPARD syndrome
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.Y279S, p.Q510P (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:151100		 ClinVar
CTD		 PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12634870, PMID:12717436, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14961557, PMID:14974085, PMID:14982869, PMID:15001945, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15389709, PMID:15470362, PMID:15520399, PMID:15539800, PMID:15690106, PMID:15712196, PMID:15723289, PMID:15761018, PMID:15834506, PMID:15889278, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16124853, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16369799, PMID:16377799, PMID:16399795, PMID:16498234, PMID:16523510, PMID:16638574, PMID:16679933, PMID:16733669, PMID:16804314, PMID:17020470, PMID:17056636, PMID:17143285, PMID:17222357, PMID:17339163, PMID:17361219, PMID:17453145, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17603483, PMID:17661820, PMID:17875892, PMID:17935252, PMID:18241070, PMID:18253957, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18470943, PMID:18505544, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19020799, PMID:19054014, PMID:19077116, PMID:19133693, PMID:19174044, PMID:19206169, PMID:19273734, PMID:19352411, PMID:19467855, PMID:19509418, PMID:19582499, PMID:19659470, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19825837, PMID:19864201, PMID:20308328, PMID:20493809, PMID:20535210, PMID:20578946, PMID:20718194, PMID:20883402, PMID:20954246, PMID:20979190, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21677813, PMID:21747628, PMID:21784453, PMID:21803945, PMID:21910226, PMID:21910245, PMID:21934682, PMID:22058153, PMID:22190897, PMID:22315187, PMID:22411627, PMID:22465605, PMID:22488759, PMID:22528600, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22781091, PMID:22822385, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23321623, PMID:23334668, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23799168, PMID:23813970, PMID:24033266, PMID:24037001, PMID:24183200, PMID:24401936, PMID:24451042, PMID:24628801, PMID:24718990, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24790373, PMID:24803665, PMID:24820750, PMID:24891296, PMID:24935154, PMID:25231023, PMID:25326635, PMID:25326637, PMID:25359717, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25708222, PMID:25724491, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25884655, PMID:25912702, PMID:25917897, PMID:25937001, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26467025, PMID:26742426, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27153395, PMID:27238887, PMID:27353043, PMID:27484170, PMID:27521173, PMID:27562378, PMID:27619028, PMID:27626068, PMID:27659786, PMID:28051113, PMID:28074573, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28957739, PMID:29276006, PMID:29493581, PMID:30311386, PMID:30732632, PMID:32581362, PMID:32860008, PMID:12058348, PMID:15121796, PMID:15520399, PMID:21339643 RGD:1601571, RGD:11062587, RGD:11062391, RGD:11070277 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines
ClinVar Annotator: match by term: LEOPARD Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1760348, PMID:10064593, PMID:11447113, PMID:16523510, PMID:17603482, PMID:17603483, PMID:17603489, PMID:18241070, PMID:18505544, PMID:19437094, PMID:19568997, PMID:19933846, PMID:19953625, PMID:20052757, PMID:20679480, PMID:20876176, PMID:21339642, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:24803665, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:29948256, PMID:30311386 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699 		JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 OMIM
ClinVar		 PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12634870, PMID:12717436, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14961557, PMID:14974085, PMID:15001945, PMID:15009076, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15389709, PMID:15470362, PMID:15520399, PMID:15539800, PMID:15690106, PMID:15712196, PMID:15723289, PMID:15761018, PMID:15834506, PMID:15889278, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16124853, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16369799, PMID:16377799, PMID:16399795, PMID:16498234, PMID:16523510, PMID:16638574, PMID:16679933, PMID:16733669, PMID:16804314, PMID:17020470, PMID:17056636, PMID:17143285, PMID:17222357, PMID:17339163, PMID:17361219, PMID:17453145, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17661820, PMID:17875892, PMID:17935252, PMID:18241070, PMID:18253957, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18470943, PMID:18505544, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19020799, PMID:19054014, PMID:19077116, PMID:19133693, PMID:19174044, PMID:19206169, PMID:19273734, PMID:19352411, PMID:19467855, PMID:19509418, PMID:19582499, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19825837, PMID:19864201, PMID:20308328, PMID:20493809, PMID:20535210, PMID:20578946, PMID:20718194, PMID:20883402, PMID:20954246, PMID:20979190, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21677813, PMID:21747628, PMID:21784453, PMID:21803945, PMID:21910226, PMID:21910245, PMID:21934682, PMID:22058153, PMID:22190897, PMID:22315187, PMID:22411627, PMID:22465605, PMID:22488759, PMID:22528600, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22781091, PMID:22822385, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23321623, PMID:23334668, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23799168, PMID:23813970, PMID:24033266, PMID:24037001, PMID:24150203, PMID:24183200, PMID:24401936, PMID:24451042, PMID:24628801, PMID:24718990, PMID:24728327, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24803665, PMID:24820750, PMID:24891296, PMID:24935154, PMID:24939587, PMID:25231023, PMID:25326635, PMID:25326637, PMID:25359717, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25708222, PMID:25724491, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25884655, PMID:25912702, PMID:25917897, PMID:25937001, PMID:26206283, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26467025, PMID:26742426, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27153395, PMID:27238887, PMID:27353043, PMID:27484170, PMID:27521173, PMID:27562378, PMID:27619028, PMID:27626068, PMID:27659786, PMID:28051113, PMID:28074573, PMID:28125078, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28957739, PMID:29276006, PMID:29493581, PMID:30311386, PMID:30732632, PMID:32581362, PMID:32860008 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124 		JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name 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 NCBI chr 4:147,514,041...147,532,086
Ensembl chr 4:147,514,120...147,532,084 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 OMIM
ClinVar		 PMID:1760348, PMID:10064593, PMID:10497893, PMID:14701845, PMID:16523510, PMID:17603482, PMID:17603483, PMID:17603486, PMID:17603489, PMID:18241070, PMID:18505544, PMID:18553519, PMID:19020799, PMID:19437094, PMID:19568997, PMID:19723757, PMID:19933846, PMID:19953625, PMID:20052757, PMID:20679480, PMID:20683980, PMID:20876176, PMID:21339642, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22558107, PMID:22821648, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23737487, PMID:23877478, PMID:23885229, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26266034, PMID:26446362, PMID:26467173, PMID:26580448, PMID:26619011, PMID:26903553, PMID:26918529, PMID:28492532, PMID:29084544, PMID:29232918, PMID:29271604, PMID:29493581, PMID:29948256, PMID:30311386, PMID:31030682 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699 		JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:12068308, PMID:12810628, PMID:12960123, PMID:14749708, PMID:15578519, PMID:16619251, PMID:17344846, PMID:17704260, PMID:18042262, PMID:18456719, PMID:18470943, PMID:19206169, PMID:19416762, PMID:22190897, PMID:24033266, PMID:24728327, PMID:24920063, PMID:25741868, PMID:26260725, PMID:26530882, PMID:26580448, PMID:26848617, PMID:28404629, PMID:28492532, PMID:30290804 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Noonan syndrome with multiple lentigines 9
        Noonan syndrome with multiple lentigines 1 2
        Noonan syndrome with multiple lentigines 2 2
        Noonan syndrome with multiple lentigines 3 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hyperpigmentation 54
                Melanosis 45
                  Lentigo 28
                    Noonan syndrome with multiple lentigines 9
                      Noonan syndrome with multiple lentigines 1 2
                      Noonan syndrome with multiple lentigines 2 2
                      Noonan syndrome with multiple lentigines 3 1
paths to the root

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