Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of the skin (HP:0000951)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the skin (HP:0008069)help
Term ID: 8069
Name: Neoplasm of the skin
Synonym: Dermatological tumors; Neoplasia of the skin; Skin cancer; Skin cancer (non-melanoma); Skin tumors; Tumor of the skin
Definition: A tumor (abnormal growth of tissue) of the skin.
Comments:
Reference: HP:0008069
Genes and Diseases:
 
       Child Nodes:
........expandSubcutaneous lipoma (HP:0001031) help
................... HP:0007596 Painful subcutaneous lipomas
........expandNeurofibromas (HP:0001067) help
................... HP:0005220 Multiple intestinal neurofibromatosis
................... HP:0006751 Paraspinal neurofibromas
................... HP:0007524 Atypical neurofibromatosis
................... HP:0007576 Palmar neurofibromas
................... HP:0009595 Occasional neurofibromas
................... HP:0009732 Plexiform neurofibroma
................... HP:0009735 Spinal neurofibromas
................... HP:0100698 Subcutaneous neurofibromas
........expandBasal cell carcinoma (HP:0002671) help
................... HP:0040098 Basalioma of the outer ear
........expandSquamous cell carcinoma (HP:0002860) help
................... HP:0006739 Squamous cell carcinoma of the skin
................... HP:0012182 Oropharyngeal squamous cell carcinoma
........expandCutaneous leiomyosarcoma (HP:0006755) help
........expandMyxoid subcutaneous tumors (HP:0006769) help
........expandCutaneous angiolipomas (HP:0006773) help
........expandMultiple cutaneous leiomyomas (HP:0007437) help
........expandFrontal cutaneous lipoma (HP:0007541) help
........expandMultiple cutaneous malignancies (HP:0007606) help
........expandCutaneous leiomyoma (HP:0007620) help
........expandPeripheral Schwannoma (HP:0009593) help
........expandAdenoma sebaceum (HP:0009720) help
........expandSteatocystoma multiplex (HP:0012035) help
........expandCutaneous melanoma (HP:0012056) help
................... HP:0012057 Superficial spreading melanoma
................... HP:0012058 Nodular melanoma
................... HP:0012059 Lentigo maligna melanoma
................... HP:0012060 Acral lentiginous melanoma
........expandPapilloma (HP:0012740) help
................... HP:0031021 Squamous Papilloma
................... HP:0040167 Facial papilloma
................... HP:0200022 Choroid plexus papilloma
................... HP:0200043 Verrucae
........expandSkin appendage neoplasm (HP:0012842) help
................... HP:0012843 Hair follicle neoplasm
................... HP:0030410 Sebaceous gland carcinoma
................... HP:0030434 Pilomatrixoma
................... HP:0031024 Cylindroma
................... HP:0031405 Poroma
................... HP:0031454 Apocrine hidrocystoma
................... HP:0031548 Follicular infundibulum tumor
........expandActinic keratosis (HP:0025127) help
........expandAcanthoma (HP:0025432) help
........expandCutaneous myxoma (HP:0030428) help
........expandFibrofolliculoma (HP:0030436) help
........expandMerkel cell skin cancer (HP:0030447) help
........expandEccrine syringofibroadenoma (HP:0031018) help
........expandSeborrheic keratosis (HP:0031287) help
........expandKeratoacanthoma (HP:0031525) help
........expandLymphocytoma cutis (HP:0031549) help
........expandKaposi's sarcoma (HP:0100726) help
........expandCutaneous mastocytosis (HP:0200151) help

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008069HP:0008069Neoplasm of the skin0CD28 CL E G H9402584ORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0008069HP:0008069Neoplasm of the skin0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0008069HP:0008069Neoplasm of the skin0COL1A1 CL E G H127731112ORPHA19672197120150
HP:0008069HP:0008069Neoplasm of the skin0CTLA4 CL E G H14932584ORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin0CTNNB1 CL E G H1499132600Pilomatrixoma132600C0206711OMIM1542514116806
HP:0008069HP:0008069Neoplasm of the skin0CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM11072584605018
HP:0008069HP:0008069Neoplasm of the skin0LMNA CL E G H400079474ORPHA15746636150330
HP:0008069HP:0008069Neoplasm of the skin0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0008069HP:0008069Neoplasm of the skin0MUTYH CL E G H4595132600Pilomatrixoma132600C0206711OMIM11787527604933
HP:0008069HP:0008069Neoplasm of the skin0NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0008069HP:0008069Neoplasm of the skin0NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0008069HP:0008069Neoplasm of the skin0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12648108300535
HP:0008069HP:0008069Neoplasm of the skin0PDGFB CL E G H515531112ORPHA1238800190040
HP:0008069HP:0008069Neoplasm of the skin0PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0008069HP:0008069Neoplasm of the skin0PMVK CL E G H10654175800Porokeratosis of Mibelli175800C0949506OMIM199141607622
HP:0008069HP:0008069Neoplasm of the skin0RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM112310031157660
HP:0008069HP:0008069Neoplasm of the skin0TNFRSF1B CL E G H71332584ORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0008069HP:0008069Neoplasm of the skin1CD28 CL E G H9402584ORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0008069HP:0008069Neoplasm of the skin1CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0008069HP:0008069Neoplasm of the skin1COL1A1 CL E G H127731112ORPHA19672197120150
HP:0008069HP:0008069Neoplasm of the skin1CTLA4 CL E G H14932584ORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin1CTNNB1 CL E G H1499132600Pilomatrixoma132600C0206711OMIM1542514116806
HP:0008069HP:0008069Neoplasm of the skin1CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM11072584605018
HP:0008069HP:0008069Neoplasm of the skin1LMNA CL E G H400079474ORPHA15746636150330
HP:0008069HP:0008069Neoplasm of the skin1MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0008069HP:0008069Neoplasm of the skin1MUTYH CL E G H4595132600Pilomatrixoma132600C0206711OMIM11787527604933
HP:0008069HP:0008069Neoplasm of the skin1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0008069HP:0008069Neoplasm of the skin1NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0008069HP:0008069Neoplasm of the skin1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12648108300535
HP:0008069HP:0008069Neoplasm of the skin1PDGFB CL E G H515531112ORPHA1238800190040
HP:0008069HP:0008069Neoplasm of the skin1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0008069HP:0008069Neoplasm of the skin1PMVK CL E G H10654175800Porokeratosis of Mibelli175800C0949506OMIM199141607622
HP:0008069HP:0008069Neoplasm of the skin1RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM112310031157660
HP:0008069HP:0008069Neoplasm of the skin1TNFRSF1B CL E G H71332584ORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin1TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0008069HP:0008069Neoplasm of the skin2CD28 CL E G H9402584ORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin2CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0008069HP:0008069Neoplasm of the skin2CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0008069HP:0008069Neoplasm of the skin2COL1A1 CL E G H127731112ORPHA19672197120150
HP:0008069HP:0008069Neoplasm of the skin2CTLA4 CL E G H14932584ORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin2CTNNB1 CL E G H1499132600Pilomatrixoma132600C0206711OMIM1542514116806
HP:0008069HP:0008069Neoplasm of the skin2CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM11072584605018
HP:0008069HP:0008069Neoplasm of the skin2LMNA CL E G H400079474ORPHA15746636150330
HP:0008069HP:0008069Neoplasm of the skin2MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0008069HP:0008069Neoplasm of the skin2MUTYH CL E G H4595132600Pilomatrixoma132600C0206711OMIM11787527604933
HP:0008069HP:0008069Neoplasm of the skin2NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0008069HP:0008069Neoplasm of the skin2NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0008069HP:0008069Neoplasm of the skin2OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12648108300535
HP:0008069HP:0008069Neoplasm of the skin2PDGFB CL E G H515531112ORPHA1238800190040
HP:0008069HP:0008069Neoplasm of the skin2PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0008069HP:0008069Neoplasm of the skin2PMVK CL E G H10654175800Porokeratosis of Mibelli175800C0949506OMIM199141607622
HP:0008069HP:0008069Neoplasm of the skin2RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM112310031157660
HP:0008069HP:0008069Neoplasm of the skin2TNFRSF1B CL E G H71332584ORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin2TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0008069HP:0008069Neoplasm of the skin3CD28 CL E G H9402584ORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin3CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0008069HP:0008069Neoplasm of the skin3CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0008069HP:0008069Neoplasm of the skin3COL1A1 CL E G H127731112ORPHA19672197120150
HP:0008069HP:0008069Neoplasm of the skin3CTLA4 CL E G H14932584ORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin3CTNNB1 CL E G H1499132600Pilomatrixoma132600C0206711OMIM1542514116806
HP:0008069HP:0008069Neoplasm of the skin3CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM11072584605018
HP:0008069HP:0008069Neoplasm of the skin3LMNA CL E G H400079474ORPHA15746636150330
HP:0008069HP:0008069Neoplasm of the skin3MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0008069HP:0008069Neoplasm of the skin3MUTYH CL E G H4595132600Pilomatrixoma132600C0206711OMIM11787527604933
HP:0008069HP:0008069Neoplasm of the skin3NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0008069HP:0008069Neoplasm of the skin3NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0008069HP:0008069Neoplasm of the skin3OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12648108300535
HP:0008069HP:0008069Neoplasm of the skin3PDGFB CL E G H515531112ORPHA1238800190040
HP:0008069HP:0008069Neoplasm of the skin3PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0008069HP:0008069Neoplasm of the skin3PMVK CL E G H10654175800Porokeratosis of Mibelli175800C0949506OMIM199141607622
HP:0008069HP:0008069Neoplasm of the skin3RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM112310031157660
HP:0008069HP:0008069Neoplasm of the skin3TNFRSF1B CL E G H71332584ORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin3TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0008069HP:0008069Neoplasm of the skin4CD28 CL E G H9402584ORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin4CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA11653186760
HP:0008069HP:0008069Neoplasm of the skin4CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0008069HP:0008069Neoplasm of the skin4CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0008069HP:0008069Neoplasm of the skin4COL1A1 CL E G H127731112ORPHA19672197120150
HP:0008069HP:0008069Neoplasm of the skin4CTLA4 CL E G H14932584ORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin4CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1722505123890
HP:0008069HP:0008069Neoplasm of the skin4CTNNB1 CL E G H1499132600Pilomatrixoma132600C0206711OMIM1542514116806
HP:0008069HP:0008069Neoplasm of the skin4CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM11072584605018
HP:0008069HP:0008069Neoplasm of the skin4LMNA CL E G H400079474ORPHA15746636150330
HP:0008069HP:0008069Neoplasm of the skin4MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0008069HP:0008069Neoplasm of the skin4MUTYH CL E G H4595132600Pilomatrixoma132600C0206711OMIM11787527604933
HP:0008069HP:0008069Neoplasm of the skin4NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0008069HP:0008069Neoplasm of the skin4NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0008069HP:0008069Neoplasm of the skin4OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12648108300535
HP:0008069HP:0008069Neoplasm of the skin4PDGFB CL E G H515531112ORPHA1238800190040
HP:0008069HP:0008069Neoplasm of the skin4PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0008069HP:0008069Neoplasm of the skin4PMVK CL E G H10654175800Porokeratosis of Mibelli175800C0949506OMIM199141607622
HP:0008069HP:0008069Neoplasm of the skin4RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM112310031157660
HP:0008069HP:0008069Neoplasm of the skin4TNFRSF1B CL E G H71332584ORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin4TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA1311917191191
HP:0008069HP:0008069Neoplasm of the skin4TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008069HP:0008069Neoplasm of the skin0APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0008069HP:0008069Neoplasm of the skin0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0008069HP:0008069Neoplasm of the skin0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01094274121014
HP:0008069HP:0008069Neoplasm of the skin0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0404285603324
HP:0008069HP:0008069Neoplasm of the skin0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0214286605425
HP:0008069HP:0008069Neoplasm of the skin0GPR143 CL E G H493554ORPHA018120145300808
HP:0008069HP:0008069Neoplasm of the skin0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0008069HP:0008069Neoplasm of the skin0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0104021136440
HP:0008069HP:0008069Neoplasm of the skin0KIT CL E G H38152884ORPHA01216342164920
HP:0008069HP:0008069Neoplasm of the skin0MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0008069HP:0008069Neoplasm of the skin0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0008069HP:0008069Neoplasm of the skin0SNAI2 CL E G H65912884ORPHA0411094602150
HP:0008069HP:0008069Neoplasm of the skin0TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0008069HP:0008069Neoplasm of the skin1APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0008069HP:0008069Neoplasm of the skin1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0008069HP:0008069Neoplasm of the skin1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01094274121014
HP:0008069HP:0008069Neoplasm of the skin1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0404285603324
HP:0008069HP:0008069Neoplasm of the skin1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0214286605425
HP:0008069HP:0008069Neoplasm of the skin1GPR143 CL E G H493554ORPHA018120145300808
HP:0008069HP:0008069Neoplasm of the skin1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0008069HP:0008069Neoplasm of the skin1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0104021136440
HP:0008069HP:0008069Neoplasm of the skin1KIT CL E G H38152884ORPHA01216342164920
HP:0008069HP:0008069Neoplasm of the skin1MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0008069HP:0008069Neoplasm of the skin1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0008069HP:0008069Neoplasm of the skin1SNAI2 CL E G H65912884ORPHA0411094602150
HP:0008069HP:0008069Neoplasm of the skin1TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0008069HP:0008069Neoplasm of the skin2APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0008069HP:0008069Neoplasm of the skin2CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0008069HP:0008069Neoplasm of the skin2GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01094274121014
HP:0008069HP:0008069Neoplasm of the skin2GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0404285603324
HP:0008069HP:0008069Neoplasm of the skin2GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0214286605425
HP:0008069HP:0008069Neoplasm of the skin2GPR143 CL E G H493554ORPHA018120145300808
HP:0008069HP:0008069Neoplasm of the skin2HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0008069HP:0008069Neoplasm of the skin2KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0104021136440
HP:0008069HP:0008069Neoplasm of the skin2KIT CL E G H38152884ORPHA01216342164920
HP:0008069HP:0008069Neoplasm of the skin2MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0008069HP:0008069Neoplasm of the skin2SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0008069HP:0008069Neoplasm of the skin2SNAI2 CL E G H65912884ORPHA0411094602150
HP:0008069HP:0008069Neoplasm of the skin2TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0008069HP:0008069Neoplasm of the skin3APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0008069HP:0008069Neoplasm of the skin3CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0008069HP:0008069Neoplasm of the skin3GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01094274121014
HP:0008069HP:0008069Neoplasm of the skin3GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0404285603324
HP:0008069HP:0008069Neoplasm of the skin3GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0214286605425
HP:0008069HP:0008069Neoplasm of the skin3GPR143 CL E G H493554ORPHA018120145300808
HP:0008069HP:0008069Neoplasm of the skin3HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0008069HP:0008069Neoplasm of the skin3KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0104021136440
HP:0008069HP:0008069Neoplasm of the skin3KIT CL E G H38152884ORPHA01216342164920
HP:0008069HP:0008069Neoplasm of the skin3MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0008069HP:0008069Neoplasm of the skin3SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0008069HP:0008069Neoplasm of the skin3SNAI2 CL E G H65912884ORPHA0411094602150
HP:0008069HP:0008069Neoplasm of the skin3TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0008069HP:0008069Neoplasm of the skin4APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0008069HP:0008069Neoplasm of the skin4CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0008069HP:0008069Neoplasm of the skin4GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01094274121014
HP:0008069HP:0008069Neoplasm of the skin4GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0404285603324
HP:0008069HP:0008069Neoplasm of the skin4GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0214286605425
HP:0008069HP:0008069Neoplasm of the skin4GPR143 CL E G H493554ORPHA018120145300808
HP:0008069HP:0008069Neoplasm of the skin4HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0008069HP:0008069Neoplasm of the skin4KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0104021136440
HP:0008069HP:0008069Neoplasm of the skin4KIT CL E G H38152884ORPHA01216342164920
HP:0008069HP:0008069Neoplasm of the skin4MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0008069HP:0008069Neoplasm of the skin4SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0008069HP:0008069Neoplasm of the skin4SNAI2 CL E G H65912884ORPHA0411094602150
HP:0008069HP:0008069Neoplasm of the skin4TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066


Genes (151) :AKT1 ALX3 APC BAP1 BLM BLNK BRD4 CARMIL2 CD28 CD79A CD79B CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 CIB1 COL1A1 COL7A1 CTLA4 CTNNB1 CTSC CXCR4 CYLD DCC DDB2 DICER1 DKC1 DOCK8 ECM1 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 FAN1 FCN3 FDPS FERMT1 FGFR1 FH FLCN FLT4 GJA1 GJB2 GJB3 GJB4 GJB6 GPR143 HPGD HRAS IGHM IGLL1 IKBKG ING1 KDSR KEAP1 KIT KLLN KRAS KRT1 KRT14 KRT16 KRT17 KRT5 KRT6B KRT9 LAMA3 LAMB3 LAMC2 LMNA LRRC8A LZTS1 MBTPS2 MC1R MDM2 MEN1 MLH1 MLH3 MMP1 MSH2 MSH3 MSH6 MUTYH MVD MVK NF1 NF2 NLRP1 NOTCH3 NRAS NTHL1 NUTM1 OCA2 OCRL PDGFB PDGFRA PDGFRB PIK3CA PIK3R1 PLCD1 PMS1 PMS2 PMVK POLH PORCN PRKAR1A PTCH1 PTCH2 PTEN RASA1 RECQL4 RMRP RNF6 RSPO1 SDHB SDHC SDHD SEC23B SLC17A9 SLC45A2 SLCO2A1 SLX4 SMO SNAI2 SPRED1 STAT1 STK4 SUFU TCF3 TERC TERT TGFBR2 TINF2 TMC6 TMC8 TNFRSF10B TNFRSF1B TNFRSF4 TP53 TRPV3 TSC1 TSC2 TYR WNT10A WRAP53 WRN WWOX XPA XPC

Diseases (140) :873 2584 3162 524 31112 132600 132700 317 54 2796 2884 79474 659 2591 616415 534 175800 250250 201 615109 136760 614327 125 210900 652 276152 155755 606719 618267 89842 226600 678 867 601606 133239 910 278740 276399 305000 217390 144 220295 601675 610651 278760 79152 2908 613001 523 606812 150800 135150 153100 602540 148210 3071 137550 163200 2612 275355 280785 280794 79455 606764 154800 841 167210 184500 615728 363618 626 79432 131100 587 158320 276300 480536 617100 193520 101000 615225 454840 615108 2387 90342 278750 2092 1359 160980 77301 605462 109400 2969 158350 221016 268400 616858 79435 613951 611431 302 226400 615593 191100 613254 79431 79434 50944 224750 613988 902 278720 247806 79665 33110 443167 618131 79408 79409 193670 530 613860 477 464 2199 79396 79404 162200 601321 637 249400 182000 85112 391487 614868 127550 2807 615107 162210 65285
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.