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
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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 H6064755ORPHA1349132102630
HP:0010566HP:0010566Hamartoma0ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0010566Hamartoma0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0010566Hamartoma0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0010566Hamartoma0CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0010566Hamartoma0CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0010566Hamartoma0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0010566Hamartoma0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0010566Hamartoma0KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0010566Hamartoma0KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0010566Hamartoma0NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0010566Hamartoma0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0010566Hamartoma0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0010566Hamartoma0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0010566Hamartoma0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0008696Renal hamartoma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0001054Numerous nevi1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0100764Lymphangioma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0004390Hamartomatous polyposis1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0009731Cerebral hamartoma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0100882Fibrous hamartoma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0001054Numerous nevi1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0100764Lymphangioma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0004390Hamartomatous polyposis1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009731Cerebral hamartoma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0100882Fibrous hamartoma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0008696Renal hamartoma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0030670Hamartoma of the orbital region1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0100883Chorangioma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0031111Cutaneous hamartoma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0011068Odontoma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0032579Vascular hamartoma1ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0030670Hamartoma of the orbital region1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0100883Chorangioma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0031111Cutaneous hamartoma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0011068Odontoma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0032579Vascular hamartoma1ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0031111Cutaneous hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0011068Odontoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0032579Vascular hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0030670Hamartoma of the orbital region1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0100883Chorangioma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0031111Cutaneous hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0011068Odontoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0032579Vascular hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0030670Hamartoma of the orbital region1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0100883Chorangioma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0100882Fibrous hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0008696Renal hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0001054Numerous nevi1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0100764Lymphangioma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0004390Hamartomatous polyposis1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0009731Cerebral hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0100882Fibrous hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0008696Renal hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0001054Numerous nevi1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0100764Lymphangioma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0004390Hamartomatous polyposis1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0009731Cerebral hamartoma1ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0031111Cutaneous hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0011068Odontoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0032579Vascular hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0030670Hamartoma of the orbital region1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0100883Chorangioma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0031111Cutaneous hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0011068Odontoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0032579Vascular hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0030670Hamartoma of the orbital region1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0100883Chorangioma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0004390Hamartomatous polyposis1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0009731Cerebral hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0100882Fibrous hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0008696Renal hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0001054Numerous nevi1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0100764Lymphangioma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0004390Hamartomatous polyposis1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009731Cerebral hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0100882Fibrous hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0008696Renal hamartoma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0001054Numerous nevi1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0100764Lymphangioma1CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0030670Hamartoma of the orbital region1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0100883Chorangioma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0031111Cutaneous hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0011068Odontoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0032579Vascular hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0030670Hamartoma of the orbital region1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0100883Chorangioma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0031111Cutaneous hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0011068Odontoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0032579Vascular hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0001054Numerous nevi1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0100764Lymphangioma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0004390Hamartomatous polyposis1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009731Cerebral hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0100882Fibrous hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0008696Renal hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0001054Numerous nevi1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0100764Lymphangioma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0004390Hamartomatous polyposis1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0009731Cerebral hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0100882Fibrous hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0008696Renal hamartoma1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0100883Chorangioma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0031111Cutaneous hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0011068Odontoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0032579Vascular hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0030670Hamartoma of the orbital region1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0031111Cutaneous hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0011068Odontoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0032579Vascular hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0030670Hamartoma of the orbital region1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0100883Chorangioma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0100764Lymphangioma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0004390Hamartomatous polyposis1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009731Cerebral hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0100882Fibrous hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0008696Renal hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0001054Numerous nevi1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0100764Lymphangioma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0004390Hamartomatous polyposis1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0009731Cerebral hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0100882Fibrous hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0008696Renal hamartoma1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0001054Numerous nevi1KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0100764Lymphangioma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0001054Numerous nevi1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009731Cerebral hamartoma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0011068Odontoma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0032579Vascular hamartoma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0100883Chorangioma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0004390Hamartomatous polyposis1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0008696Renal hamartoma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0100882Fibrous hamartoma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0030670Hamartoma of the orbital region1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0031111Cutaneous hamartoma1NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0011068Odontoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0032579Vascular hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0030670Hamartoma of the orbital region1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0100883Chorangioma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0031111Cutaneous hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0011068Odontoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0032579Vascular hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0030670Hamartoma of the orbital region1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0100883Chorangioma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0031111Cutaneous hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0100882Fibrous hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0008696Renal hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0001054Numerous nevi1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0100764Lymphangioma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0004390Hamartomatous polyposis1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0009731Cerebral hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0100882Fibrous hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0008696Renal hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0001054Numerous nevi1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0100764Lymphangioma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0004390Hamartomatous polyposis1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0009731Cerebral hamartoma1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0011068Odontoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0032579Vascular hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0030670Hamartoma of the orbital region1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0100883Chorangioma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0031111Cutaneous hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0030670Hamartoma of the orbital region1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0100883Chorangioma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0031111Cutaneous hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0011068Odontoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0032579Vascular hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0008696Renal hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0001054Numerous nevi1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0100764Lymphangioma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0004390Hamartomatous polyposis1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0009731Cerebral hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0100882Fibrous hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0008696Renal hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0001054Numerous nevi1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0100764Lymphangioma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0004390Hamartomatous polyposis1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0009731Cerebral hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0100882Fibrous hamartoma1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0500091Lymphangioma of the orbit2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0010568Hamartoma of the eye2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0009717Cortical tubers2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0012198Juvenile colonic polyposis2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0500091Lymphangioma of the orbit2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0010568Hamartoma of the eye2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009717Cortical tubers2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0012198Juvenile colonic polyposis2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0006772Renal angiomyolipoma2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0009716Subependymal nodules2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0030785Mediastinal cystic lymphangioma2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0002444Hypothalamic hamartoma2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0004795Hamartomatous stomach polyps2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0006772Renal angiomyolipoma2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009716Subependymal nodules2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0030785Mediastinal cystic lymphangioma2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0002444Hypothalamic hamartoma2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0004795Hamartomatous stomach polyps2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0006772Renal angiomyolipoma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0009716Subependymal nodules2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0030785Mediastinal cystic lymphangioma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0002444Hypothalamic hamartoma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0004795Hamartomatous stomach polyps2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0006772Renal angiomyolipoma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0009716Subependymal nodules2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0030785Mediastinal cystic lymphangioma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0002444Hypothalamic hamartoma2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0004795Hamartomatous stomach polyps2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0012198Juvenile colonic polyposis2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0500091Lymphangioma of the orbit2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0010568Hamartoma of the eye2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0009717Cortical tubers2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0012198Juvenile colonic polyposis2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0500091Lymphangioma of the orbit2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0010568Hamartoma of the eye2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0009717Cortical tubers2ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0002444Hypothalamic hamartoma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0004795Hamartomatous stomach polyps2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0006772Renal angiomyolipoma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0009716Subependymal nodules2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0030785Mediastinal cystic lymphangioma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0002444Hypothalamic hamartoma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0004795Hamartomatous stomach polyps2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0006772Renal angiomyolipoma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009716Subependymal nodules2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0030785Mediastinal cystic lymphangioma2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0012198Juvenile colonic polyposis2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0500091Lymphangioma of the orbit2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0010568Hamartoma of the eye2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0009717Cortical tubers2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0012198Juvenile colonic polyposis2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0500091Lymphangioma of the orbit2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0010568Hamartoma of the eye2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009717Cortical tubers2CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0006772Renal angiomyolipoma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009716Subependymal nodules2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0030785Mediastinal cystic lymphangioma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0002444Hypothalamic hamartoma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0004795Hamartomatous stomach polyps2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0006772Renal angiomyolipoma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0009716Subependymal nodules2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0030785Mediastinal cystic lymphangioma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0002444Hypothalamic hamartoma2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0004795Hamartomatous stomach polyps2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0500091Lymphangioma of the orbit2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0010568Hamartoma of the eye2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009717Cortical tubers2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0012198Juvenile colonic polyposis2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0500091Lymphangioma of the orbit2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0010568Hamartoma of the eye2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0009717Cortical tubers2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0012198Juvenile colonic polyposis2DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0009716Subependymal nodules2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0030785Mediastinal cystic lymphangioma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0002444Hypothalamic hamartoma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0004795Hamartomatous stomach polyps2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0006772Renal angiomyolipoma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009716Subependymal nodules2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0030785Mediastinal cystic lymphangioma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0002444Hypothalamic hamartoma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0004795Hamartomatous stomach polyps2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0006772Renal angiomyolipoma2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0010568Hamartoma of the eye2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009717Cortical tubers2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0012198Juvenile colonic polyposis2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0500091Lymphangioma of the orbit2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009717Cortical tubers2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0012198Juvenile colonic polyposis2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0500091Lymphangioma of the orbit2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0010568Hamartoma of the eye2KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0012198Juvenile colonic polyposis2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0004795Hamartomatous stomach polyps2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0006772Renal angiomyolipoma2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0002444Hypothalamic hamartoma2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0010568Hamartoma of the eye2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009717Cortical tubers2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0500091Lymphangioma of the orbit2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0030785Mediastinal cystic lymphangioma2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009716Subependymal nodules2NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0006772Renal angiomyolipoma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0009716Subependymal nodules2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0030785Mediastinal cystic lymphangioma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0002444Hypothalamic hamartoma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0004795Hamartomatous stomach polyps2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0006772Renal angiomyolipoma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0009716Subependymal nodules2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0030785Mediastinal cystic lymphangioma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0002444Hypothalamic hamartoma2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0004795Hamartomatous stomach polyps2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0500091Lymphangioma of the orbit2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0010568Hamartoma of the eye2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0009717Cortical tubers2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0012198Juvenile colonic polyposis2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0500091Lymphangioma of the orbit2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0010568Hamartoma of the eye2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0009717Cortical tubers2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0012198Juvenile colonic polyposis2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0006772Renal angiomyolipoma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0009716Subependymal nodules2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0030785Mediastinal cystic lymphangioma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0002444Hypothalamic hamartoma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0004795Hamartomatous stomach polyps2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0006772Renal angiomyolipoma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0009716Subependymal nodules2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0030785Mediastinal cystic lymphangioma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0002444Hypothalamic hamartoma2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0004795Hamartomatous stomach polyps2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0500091Lymphangioma of the orbit2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0010568Hamartoma of the eye2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0009717Cortical tubers2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0012198Juvenile colonic polyposis2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0500091Lymphangioma of the orbit2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0010568Hamartoma of the eye2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0009717Cortical tubers2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0012198Juvenile colonic polyposis2TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0100780Conjunctival hamartoma3ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0009594Retinal hamartoma3ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0100780Conjunctival hamartoma3ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009594Retinal hamartoma3ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009737Lisch nodules3ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0009737Lisch nodules3ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009737Lisch nodules3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0009737Lisch nodules3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0100780Conjunctival hamartoma3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0009594Retinal hamartoma3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0100780Conjunctival hamartoma3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0009594Retinal hamartoma3ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0009737Lisch nodules3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0009737Lisch nodules3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009594Retinal hamartoma3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0100780Conjunctival hamartoma3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0100780Conjunctival hamartoma3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009594Retinal hamartoma3CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009737Lisch nodules3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009737Lisch nodules3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0100780Conjunctival hamartoma3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009594Retinal hamartoma3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009594Retinal hamartoma3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0100780Conjunctival hamartoma3DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0009737Lisch nodules3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009737Lisch nodules3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0009594Retinal hamartoma3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0100780Conjunctival hamartoma3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009594Retinal hamartoma3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0100780Conjunctival hamartoma3KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0100780Conjunctival hamartoma3NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009594Retinal hamartoma3NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009737Lisch nodules3NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009737Lisch nodules3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0009737Lisch nodules3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0100780Conjunctival hamartoma3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0009594Retinal hamartoma3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0100780Conjunctival hamartoma3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0009594Retinal hamartoma3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0009737Lisch nodules3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0009737Lisch nodules3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0100780Conjunctival hamartoma3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0009594Retinal hamartoma3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0100780Conjunctival hamartoma3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0009594Retinal hamartoma3TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0012778Retinal astrocytic hamartoma4ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0030508Retinal cavernous hemangioma4ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0012778Retinal astrocytic hamartoma4ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0030508Retinal cavernous hemangioma4ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0030509Retinal racemose hemangioma4ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0009711Retinal capillary hemangioma4ACTB CL E G H6064755ORPHA1349132102630
HP:0010566HP:0030509Retinal racemose hemangioma4ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009711Retinal capillary hemangioma4ACTB CL E G H6064755ORPHA1322132102630
HP:0010566HP:0009711Retinal capillary hemangioma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0030509Retinal racemose hemangioma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0009711Retinal capillary hemangioma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0030509Retinal racemose hemangioma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0012778Retinal astrocytic hamartoma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0030508Retinal cavernous hemangioma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0010566HP:0030508Retinal cavernous hemangioma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0012778Retinal astrocytic hamartoma4ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0009711Retinal capillary hemangioma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0030509Retinal racemose hemangioma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0009711Retinal capillary hemangioma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0030509Retinal racemose hemangioma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0012778Retinal astrocytic hamartoma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0030508Retinal cavernous hemangioma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0010566HP:0012778Retinal astrocytic hamartoma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0030508Retinal cavernous hemangioma4CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0010566HP:0030509Retinal racemose hemangioma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0009711Retinal capillary hemangioma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0009711Retinal capillary hemangioma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0030509Retinal racemose hemangioma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0012778Retinal astrocytic hamartoma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0030508Retinal cavernous hemangioma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0010566HP:0012778Retinal astrocytic hamartoma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0030508Retinal cavernous hemangioma4DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0009711Retinal capillary hemangioma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0030509Retinal racemose hemangioma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0009711Retinal capillary hemangioma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0030509Retinal racemose hemangioma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0012778Retinal astrocytic hamartoma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0030508Retinal cavernous hemangioma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM127037212612105
HP:0010566HP:0012778Retinal astrocytic hamartoma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0030508Retinal cavernous hemangioma4KLLN CL E G H100144748615107Cowden syndrome 4615107C3554517OMIM124837212612105
HP:0010566HP:0030508Retinal cavernous hemangioma4NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009711Retinal capillary hemangioma4NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0012778Retinal astrocytic hamartoma4NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0030509Retinal racemose hemangioma4NEK9 CL E G H9175464754ORPHA17918591609798
HP:0010566HP:0009711Retinal capillary hemangioma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0030509Retinal racemose hemangioma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0030509Retinal racemose hemangioma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0009711Retinal capillary hemangioma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0030508Retinal cavernous hemangioma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0012778Retinal astrocytic hamartoma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0010566HP:0030508Retinal cavernous hemangioma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0012778Retinal astrocytic hamartoma4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0010566HP:0030509Retinal racemose hemangioma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0009711Retinal capillary hemangioma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0030509Retinal racemose hemangioma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0009711Retinal capillary hemangioma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0030508Retinal cavernous hemangioma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0012778Retinal astrocytic hamartoma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010566HP:0012778Retinal astrocytic hamartoma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0010566HP:0030508Retinal cavernous hemangioma4TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
 
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 480536 311200 109400 206900 805 538 191100 613254 312 193520 162210 162200 601321 101000 29072 892 193300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.