Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Neoplasm by histology (HP:0011792)help
..Starting node
..expand
Hamartoma (HP:0010566)help
Term ID: 10566
Name: Hamartoma
Synonym:
Definition: A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Comments:
Reference: HP:0010566
Genes and Diseases:
 
       Child Nodes:
........expandNumerous nevi (HP:0001054) help
........expandHamartomatous polyposis (HP:0004390) help
................... HP:0004784 Juvenile gastrointestinal polyposis
................... HP:0004795 Hamartomatous stomach polyps
................... HP:0012198 Juvenile colonic polyposis
........expandRenal hamartoma (HP:0008696) help
................... HP:0006772 Renal angiomyolipoma
........expandCerebral hamartomata (HP:0009731) help
................... HP:0002444 Hypothalamic hamartoma
................... HP:0009716 Subependymal nodules
................... HP:0009717 Cortical tubers
........expandHamartoma of the eye (HP:0010568) help
................... HP:0009594 Retinal hamartoma
................... HP:0009737 Lisch nodules
................... HP:0100780 Conjunctival hamartoma
........expandOdontoma (HP:0011068) help
........expandCutaneous hamartoma (HP:0031111) help
........expandLymphangioma (HP:0100764) help
................... HP:0030785 Mediastinal cystic lymphangioma
................... HP:0500091 Lymphangioma of the orbit
........expandFibrous hamartoma (HP:0100882) help
........expandChorangioma (HP:0100883) help

 Sister Nodes: 
..expandEmbryonal neoplasm (HP:0002898) help
..expandEpithelial neoplasm (HP:0031492) help
..expandFibrous tissue neoplasm (HP:0012316) help
..expandMelanoma (HP:0002861) help
..expandNervous tissue neoplasm (HP:0030060) help
..expandSarcoma (HP:0100242) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010566HP:0010566Hamartoma0ACTB CL E G H6064755ORPHA165224132102630
HP:0010566HP:0010566Hamartoma0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0010566HP:0010566Hamartoma0CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM110452616783607393
HP:0010566HP:0010566Hamartoma0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0010566HP:0010566Hamartoma0KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM1823837212612105
HP:0010566HP:0010566Hamartoma0NEK9 CL E G H9175464754ORPHA134518591609798
HP:0010566HP:0010566Hamartoma0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0010566HP:0010566Hamartoma0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0010566HP:0010566Hamartoma1ACTB CL E G H6064755ORPHA165224132102630
HP:0010566HP:0010566Hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0010566HP:0010566Hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM110452616783607393
HP:0010566HP:0010566Hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0010566HP:0010566Hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM1823837212612105
HP:0010566HP:0010566Hamartoma1NEK9 CL E G H9175464754ORPHA134518591609798
HP:0010566HP:0010566Hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0010566HP:0010566Hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0010566HP:0010566Hamartoma2ACTB CL E G H6064755ORPHA165224132102630
HP:0010566HP:0010566Hamartoma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0010566HP:0010566Hamartoma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM110452616783607393
HP:0010566HP:0010566Hamartoma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0010566HP:0010566Hamartoma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM1823837212612105
HP:0010566HP:0010566Hamartoma2NEK9 CL E G H9175464754ORPHA134518591609798
HP:0010566HP:0010566Hamartoma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0010566HP:0010566Hamartoma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0010566HP:0010566Hamartoma3ACTB CL E G H6064755ORPHA165224132102630
HP:0010566HP:0010566Hamartoma3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0010566HP:0010566Hamartoma3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM110452616783607393
HP:0010566HP:0010566Hamartoma3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0010566HP:0010566Hamartoma3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM1823837212612105
HP:0010566HP:0010566Hamartoma3NEK9 CL E G H9175464754ORPHA134518591609798
HP:0010566HP:0010566Hamartoma3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0010566HP:0010566Hamartoma3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (62) :ACTB ACVR1 ADAMTS3 AKT1 APC BMPR1A BRAF CCBE1 CDC73 CDKN1B COL18A1 COMP CPLANE1 DIS3L2 DYNC2LI1 FAT4 FGF3 FGFR3 FH GLI3 HRAS IDH1 IDH2 KIAA0753 KIF1B KIF7 KLLN KRT1 KRT10 MAX MDH2 MSH3 NEK9 NF1 NF2 NRAS OFD1 PDE6D PIK3CA PTCH1 PTCH2 PTEN PTH1R RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SIX6 SMAD4 SOX2 STK11 SUFU TCTN3 TFAP2A TMEM127 TMEM216 TSC1 TSC2 VHL

Diseases (55) :64755 135100 145001 617088 615107 64754 2753 113620 2136 201 744 615109 176920 79665 247806 175100 613707 143 99880 1571 750 267000 2791 162900 296 615108 137608 109 158350 175050 175200 610069 276152 610755 2754 277170 672 146510 312 480536 193520 162210 162200 601321 101000 311200 109400 206900 538 805 191100 613254 29072 892 193300
 

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