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ONTOLOGY REPORT - ANNOTATIONS


Term:LEOPARD syndrome
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Accession:DOID:14291 term browser browse the term
Definition:An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Synonyms:exact_synonym: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome;   Cardio-Cutaneous Syndromes;   Cardiocutaneous syndrome;   Cardiomyopathic Lentiginoses;   Cardiomyopathic Lentiginosis;   Generalized lentiginosis;   Gorlin syndrome II;   LEOPARD Syndromes;   Lentiginosis Cardiomyopathics;   Lentiginosis profusa syndrome;   Moynahan syndrome;   Multiple Lentigines Syndrome;   Multiple Lentigines Syndromes;   Noonan Syndrome with Multiple Lentigines;   Progressive Cardiomyopathic Lentiginoses;   cardio cutaneous syndrome;   progressive cardiomyopathic lentiginosis
 primary_id: MESH:D044542
 alt_id: RDO:0002888
 xref: GARD:1100;   NCI:C84820;   OMIM:PS151100
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LEOPARD 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:8554872
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 1 80,271,288 80,290,946 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:1601571
RGD:8554872
RGD:11062587
RGD:11062391
RGD:11070277
RGD:11554173
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
RGD:11554173
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
LEOPARD syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
LEOPARD syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:7240710
RGD:8554872
LEOPARD syndrome 3 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      LEOPARD syndrome 8
        LEOPARD syndrome 1 1
        LEOPARD syndrome 2 1
        LEOPARD syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            pigmentation disease 212
              Hyperpigmentation 45
                Melanosis 35
                  Lentigo 27
                    LEOPARD syndrome 8
                      LEOPARD syndrome 1 1
                      LEOPARD syndrome 2 1
                      LEOPARD syndrome 3 1
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.