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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010566HP:0010566Hamartoma0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040281 - Very frequent72
HP:0010566HP:0010566Hamartoma0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0010566HP:0010566Hamartoma0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0010566HP:0010566Hamartoma0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010566HP:0010566Hamartoma0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0010566HP:0010566Hamartoma0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0010566HP:0010566Hamartoma0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0010566HP:0010566Hamartoma0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0010566HP:0010566Hamartoma0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0010566HP:0010566Hamartoma0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0010566HP:0010566Hamartoma0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0010566HP:0010566Hamartoma0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0010566HP:0010566Hamartoma0BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0010566HP:0010566Hamartoma0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0010566HP:0010566Hamartoma0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0010566HP:0010566Hamartoma0BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant276
HP:0010566HP:0010566Hamartoma0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0010566HP:0010566Hamartoma0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0010566HP:0010566Hamartoma0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0010566HP:0010566Hamartoma0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0010566HP:0010566Hamartoma0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0010566HP:0010566Hamartoma0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0010566HP:0010566Hamartoma0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0010566HP:0010566Hamartoma0CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3145
HP:0010566HP:0010566Hamartoma0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0010566HP:0010566Hamartoma0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0010566HP:0010566Hamartoma0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndrome177
HP:0010566HP:0010566Hamartoma0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0010566HP:0010566Hamartoma0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0010566HP:0010566Hamartoma0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0010566HP:0010566Hamartoma0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0010566Hamartoma0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0010566HP:0010566Hamartoma0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0010566HP:0010566Hamartoma0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0010566HP:0010566Hamartoma0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0010566HP:0010566Hamartoma0FGFR3 CL E G H22613690OMIM:162900Epidermal nevus, somatic145
HP:0010566HP:0010566Hamartoma0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0010566HP:0010566Hamartoma0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0010566HP:0010566Hamartoma0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0010566HP:0010566Hamartoma0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0010566HP:0010566Hamartoma0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0010566HP:0010566Hamartoma0HRAS CL E G H32655173OMIM:162900Epidermal nevus, somatic113
HP:0010566HP:0010566Hamartoma0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0010566HP:0010566Hamartoma0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0010566HP:0010566Hamartoma0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0010566HP:0010566Hamartoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0010566HP:0010566Hamartoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0010566Hamartoma0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0010566HP:0010566Hamartoma0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0010566HP:0010566Hamartoma0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0010566HP:0010566Hamartoma0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0010566HP:0010566Hamartoma0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0010566HP:0010566Hamartoma0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010566HP:0010566Hamartoma0KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 4.1
HP:0010566HP:0010566Hamartoma0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0010566HP:0010566Hamartoma0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0010566HP:0010566Hamartoma0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010566HP:0010566Hamartoma0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0010566HP:0010566Hamartoma0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0010566HP:0010566Hamartoma0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0010566HP:0010566Hamartoma0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0010566HP:0010566Hamartoma0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0010566HP:0010566Hamartoma0NEK9 CL E G H9175418591ORPHA:64754Nevus comedonicus syndromeHP:0040281 - Very frequent9
HP:0010566HP:0010566Hamartoma0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0010566HP:0010566Hamartoma0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0010566HP:0010566Hamartoma0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0010566HP:0010566Hamartoma0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0010566HP:0010566Hamartoma0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0010566HP:0010566Hamartoma0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0010566HP:0010566Hamartoma0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0010566HP:0010566Hamartoma0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0010566HP:0010566Hamartoma0NRAS CL E G H48937989OMIM:162900Epidermal nevus, somatic102
HP:0010566HP:0010566Hamartoma0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0010566HP:0010566Hamartoma0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0010566HP:0010566Hamartoma0PAK2 CL E G H50628591ORPHA:1571Knobloch syndrome
HP:0010566HP:0010566Hamartoma0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0010566HP:0010566Hamartoma0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0010566HP:0010566Hamartoma0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010566HP:0010566Hamartoma0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0010566HP:0010566Hamartoma0PIK3CA CL E G H52908975OMIM:162900Epidermal nevus, somatic162
HP:0010566HP:0010566Hamartoma0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0010566HP:0010566Hamartoma0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0010566HP:0010566Hamartoma0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0010566HP:0010566Hamartoma0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010566HP:0010566Hamartoma0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0010566HP:0010566Hamartoma0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0010566HP:0010566Hamartoma0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0010566HP:0010566Hamartoma0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040282 - Frequent948
HP:0010566HP:0010566Hamartoma0PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0010566HP:0010566Hamartoma0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0010566HP:0010566Hamartoma0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0010566HP:0010566Hamartoma0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0010566HP:0010566Hamartoma0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010566HP:0010566Hamartoma0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0010566HP:0010566Hamartoma0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010566HP:0010566Hamartoma0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0010566HP:0010566Hamartoma0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010566HP:0010566Hamartoma0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0010566HP:0010566Hamartoma0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010566HP:0010566Hamartoma0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0010566HP:0010566Hamartoma0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0010566Hamartoma0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504
HP:0010566HP:0010566Hamartoma0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0010566HP:0010566Hamartoma0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0010566HP:0010566Hamartoma0STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant740
HP:0010566HP:0010566Hamartoma0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0010566HP:0010566Hamartoma0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0010566HP:0010566Hamartoma0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0010566HP:0010566Hamartoma0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0010566HP:0010566Hamartoma0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0010566HP:0010566Hamartoma0TIAM1 CL E G H707411805OMIM:6199082
HP:0010566HP:0010566Hamartoma0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0010566HP:0010566Hamartoma0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0010566HP:0010566Hamartoma0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0010566HP:0010566Hamartoma0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0010566HP:0010566Hamartoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0010566HP:0010566Hamartoma0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0010566HP:0010566Hamartoma0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0010566HP:0010566Hamartoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0010566HP:0010566Hamartoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0010566Hamartoma0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010566HP:0010566Hamartoma0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0010566HP:0010566Hamartoma0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0010566HP:0010566Hamartoma0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0010566HP:0010566Hamartoma0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0010566HP:0100883Chorangioma1 CL E G H
HP:0010566HP:0100882Fibrous hamartoma1 CL E G H
HP:0010566HP:0034514Liver hamartoma1 CL E G H
HP:0010566HP:0031111Cutaneous hamartoma1 CL E G H
HP:0010566HP:0032579Vascular hamartoma1 CL E G H
HP:0010566HP:0100764Lymphangioma1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0010566HP:0004390Hamartomatous polyposis1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0010566HP:0030670Hamartoma of the orbital region1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010566HP:0004390Hamartomatous polyposis1AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0010566HP:0030670Hamartoma of the orbital region1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0010566HP:0100764Lymphangioma1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0010566HP:0100764Lymphangioma1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0010566HP:0011068Odontoma1APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0010566HP:0011068Odontoma1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0010566HP:0011068Odontoma1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0010566HP:0004390Hamartomatous polyposis1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0010566HP:0004390Hamartomatous polyposis1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0010566HP:0004390Hamartomatous polyposis1BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0010566HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0010566HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0010566HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0010566HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0010566HP:0100764Lymphangioma1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0010566HP:0030670Hamartoma of the orbital region1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0010566HP:0030670Hamartoma of the orbital region1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0010566HP:0008696Renal hamartoma1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0010566HP:0008696Renal hamartoma1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0010566HP:0001054Numerous nevi1CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0010566HP:0008696Renal hamartoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0010566HP:0008696Renal hamartoma1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0010566HP:0100764Lymphangioma1COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040283 - Occasional177
HP:0010566HP:0009731Cerebral hamartoma1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0010566HP:0009731Cerebral hamartoma1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0010566HP:0008696Renal hamartoma1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0010566HP:0030670Hamartoma of the orbital region1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0009731Cerebral hamartoma1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0010566HP:0100764Lymphangioma1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0010566HP:0011068Odontoma1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0010566HP:0001054Numerous nevi1FGFR3 CL E G H22613690OMIM:162900Epidermal nevus, somatic.145
HP:0010566HP:0030670Hamartoma of the orbital region1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0010566HP:0009731Cerebral hamartoma1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0010566HP:0009731Cerebral hamartoma1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0010566HP:0009731Cerebral hamartoma1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0010566HP:0004390Hamartomatous polyposis1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0010566HP:0001054Numerous nevi1HRAS CL E G H32655173OMIM:162900Epidermal nevus, somatic.113
HP:0010566HP:0100764Lymphangioma1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0010566HP:0100764Lymphangioma1IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040283 - Occasional15
HP:0010566HP:0100764Lymphangioma1IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040283 - Occasional29
HP:0010566HP:0009731Cerebral hamartoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0010566HP:0030670Hamartoma of the orbital region1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0010566HP:0008696Renal hamartoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0010566HP:0008696Renal hamartoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0009731Cerebral hamartoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0030670Hamartoma of the orbital region1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0001054Numerous nevi1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0010566HP:0001054Numerous nevi1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0010566HP:0009731Cerebral hamartoma1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0010566HP:0030670Hamartoma of the orbital region1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0010566HP:0009731Cerebral hamartoma1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0010566HP:0004390Hamartomatous polyposis1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0010566HP:0030670Hamartoma of the orbital region1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010566HP:0030670Hamartoma of the orbital region1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0010566HP:0030670Hamartoma of the orbital region1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0010566HP:0009731Cerebral hamartoma1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010566HP:0030670Hamartoma of the orbital region1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0010566HP:0030670Hamartoma of the orbital region1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0010566HP:0004390Hamartomatous polyposis1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0010566HP:0030670Hamartoma of the orbital region1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0010566HP:0008696Renal hamartoma1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0010566HP:0030670Hamartoma of the orbital region1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0010566HP:0030670Hamartoma of the orbital region1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0010566HP:0030670Hamartoma of the orbital region1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0010566HP:0030670Hamartoma of the orbital region1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0010566HP:0030670Hamartoma of the orbital region1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0010566HP:0030670Hamartoma of the orbital region1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0010566HP:0030670Hamartoma of the orbital region1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0010566HP:0030670Hamartoma of the orbital region1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0010566HP:0001054Numerous nevi1NRAS CL E G H48937989OMIM:162900Epidermal nevus, somatic.102
HP:0010566HP:0009731Cerebral hamartoma1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0010566HP:0009731Cerebral hamartoma1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0010566HP:0100764Lymphangioma1PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040283 - Occasional
HP:0010566HP:0001054Numerous nevi1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0010566HP:0009731Cerebral hamartoma1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0010566HP:0030670Hamartoma of the orbital region1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010566HP:0004390Hamartomatous polyposis1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0010566HP:0004390Hamartomatous polyposis1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0010566HP:0001054Numerous nevi1PIK3CA CL E G H52908975OMIM:162900Epidermal nevus, somatic.162
HP:0010566HP:0004390Hamartomatous polyposis1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0010566HP:0004390Hamartomatous polyposis1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0010566HP:0004390Hamartomatous polyposis1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0010566HP:0004390Hamartomatous polyposis1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0010566HP:0030670Hamartoma of the orbital region1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010566HP:0004390Hamartomatous polyposis1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0010566HP:0004390Hamartomatous polyposis1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0010566HP:0030670Hamartoma of the orbital region1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0010566HP:0100764Lymphangioma1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0010566HP:0100764Lymphangioma1PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0010566HP:0100764Lymphangioma1PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040283 - Occasional58
HP:0010566HP:0030670Hamartoma of the orbital region1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0010566HP:0030670Hamartoma of the orbital region1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0010566HP:0030670Hamartoma of the orbital region1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0010566HP:0004390Hamartomatous polyposis1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0010566HP:0030670Hamartoma of the orbital region1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010566HP:0030670Hamartoma of the orbital region1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0010566HP:0004390Hamartomatous polyposis1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0010566HP:0030670Hamartoma of the orbital region1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010566HP:0030670Hamartoma of the orbital region1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0010566HP:0004390Hamartomatous polyposis1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0010566HP:0030670Hamartoma of the orbital region1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010566HP:0030670Hamartoma of the orbital region1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0010566HP:0004390Hamartomatous polyposis1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0010566HP:0030670Hamartoma of the orbital region1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010566HP:0009731Cerebral hamartoma1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0010566HP:0030670Hamartoma of the orbital region1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0004390Hamartomatous polyposis1SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.504
HP:0010566HP:0009731Cerebral hamartoma1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0010566HP:0009731Cerebral hamartoma1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0010566HP:0001054Numerous nevi1STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0010566HP:0004390Hamartomatous polyposis1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0010566HP:0004390Hamartomatous polyposis1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0010566HP:0009731Cerebral hamartoma1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0010566HP:0009731Cerebral hamartoma1TIAM1 CL E G H707411805OMIM:6199082
HP:0010566HP:0030670Hamartoma of the orbital region1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0010566HP:0009731Cerebral hamartoma1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0010566HP:0009731Cerebral hamartoma1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0010566HP:0030670Hamartoma of the orbital region1TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0010566HP:0008696Renal hamartoma1TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0010566HP:0008696Renal hamartoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0010566HP:0009731Cerebral hamartoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0010566HP:0030670Hamartoma of the orbital region1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0010566HP:0008696Renal hamartoma1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0010566HP:0009731Cerebral hamartoma1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0010566HP:0008696Renal hamartoma1TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0010566HP:0030670Hamartoma of the orbital region1TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0010566HP:0008696Renal hamartoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0010566HP:0009731Cerebral hamartoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0010566HP:0030670Hamartoma of the orbital region1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0010566HP:0009731Cerebral hamartoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0030670Hamartoma of the orbital region1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0008696Renal hamartoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0004390Hamartomatous polyposis1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0010566HP:0030670Hamartoma of the orbital region1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010566HP:0030670Hamartoma of the orbital region1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0010566HP:0030670Hamartoma of the orbital region1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0010566HP:0030670Hamartoma of the orbital region1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0010566HP:0009731Cerebral hamartoma1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0010566HP:0030785Mediastinal cystic lymphangioma2 CL E G H
HP:0010566HP:0500091Lymphangioma of the orbit2 CL E G H
HP:0010566HP:0010568Hamartoma of the eye2AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010566HP:0010568Hamartoma of the eye2AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0010566HP:0012198Juvenile colonic polyposis2BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0010566HP:0012198Juvenile colonic polyposis2BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0010566HP:0010568Hamartoma of the eye2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0010566HP:0010568Hamartoma of the eye2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0010566HP:0006772Renal angiomyolipoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0010566HP:0006772Renal angiomyolipoma2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0010566HP:0002444Hypothalamic hamartoma2CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0010566HP:0002444Hypothalamic hamartoma2CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0010566HP:0010568Hamartoma of the eye2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0002444Hypothalamic hamartoma2FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0010566HP:0010568Hamartoma of the eye2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0010566HP:0009716Subependymal nodules2GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0010566HP:0002444Hypothalamic hamartoma2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040280 - Obligate270
HP:0010566HP:0002444Hypothalamic hamartoma2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0010566HP:0012198Juvenile colonic polyposis2GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9
HP:0010566HP:0009716Subependymal nodules2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0010566HP:0009717Cortical tubers2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0010566HP:0010568Hamartoma of the eye2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0010566HP:0006772Renal angiomyolipoma2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0010566HP:0009716Subependymal nodules2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0009717Cortical tubers2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0006772Renal angiomyolipoma2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0010566HP:0010568Hamartoma of the eye2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0002444Hypothalamic hamartoma2KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0010566HP:0010568Hamartoma of the eye2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0010566HP:0002444Hypothalamic hamartoma2KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0010566HP:0010568Hamartoma of the eye2KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010566HP:0010568Hamartoma of the eye2KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0010566HP:0010568Hamartoma of the eye2KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0010566HP:0002444Hypothalamic hamartoma2MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010566HP:0010568Hamartoma of the eye2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0010566HP:0010568Hamartoma of the eye2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040281 - Very frequent5
HP:0010566HP:0010568Hamartoma of the eye2MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0010566HP:0006772Renal angiomyolipoma2MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0010566HP:0010568Hamartoma of the eye2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0010566HP:0010568Hamartoma of the eye2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0010566HP:0010568Hamartoma of the eye2NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0010566HP:0010568Hamartoma of the eye2NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0010566HP:0010568Hamartoma of the eye2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0010566HP:0010568Hamartoma of the eye2NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0010566HP:0010568Hamartoma of the eye2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0010566HP:0010568Hamartoma of the eye2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0010566HP:0002444Hypothalamic hamartoma2OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0010566HP:0002444Hypothalamic hamartoma2OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0010566HP:0002444Hypothalamic hamartoma2PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0010566HP:0010568Hamartoma of the eye2PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010566HP:0004795Hamartomatous stomach polyps2PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0010566HP:0004795Hamartomatous stomach polyps2PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0010566HP:0010568Hamartoma of the eye2PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010566HP:0010568Hamartoma of the eye2PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0010566HP:0010568Hamartoma of the eye2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0010566HP:0010568Hamartoma of the eye2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0010566HP:0010568Hamartoma of the eye2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0010566HP:0010568Hamartoma of the eye2SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010566HP:0010568Hamartoma of the eye2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0010566HP:0010568Hamartoma of the eye2SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010566HP:0010568Hamartoma of the eye2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0010566HP:0010568Hamartoma of the eye2SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010566HP:0010568Hamartoma of the eye2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0010566HP:0010568Hamartoma of the eye2SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010566HP:0002444Hypothalamic hamartoma2SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0010566HP:0010568Hamartoma of the eye2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0004784Juvenile gastrointestinal polyposis2SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504
HP:0010566HP:0002444Hypothalamic hamartoma2SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0010566HP:0002444Hypothalamic hamartoma2SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0010566HP:0004795Hamartomatous stomach polyps2SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0010566HP:0002444Hypothalamic hamartoma2TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0010566HP:0002444Hypothalamic hamartoma2TIAM1 CL E G H707411805OMIM:6199082
HP:0010566HP:0010568Hamartoma of the eye2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0010566HP:0002444Hypothalamic hamartoma2TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0010566HP:0002444Hypothalamic hamartoma2TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0010566HP:0006772Renal angiomyolipoma2TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0010566HP:0010568Hamartoma of the eye2TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0010566HP:0009716Subependymal nodules2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent1090
HP:0010566HP:0009717Cortical tubers2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent1090
HP:0010566HP:0010568Hamartoma of the eye2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0010566HP:0006772Renal angiomyolipoma2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0010566HP:0009717Cortical tubers2TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0010566HP:0006772Renal angiomyolipoma2TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0010566HP:0009716Subependymal nodules2TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0010566HP:0006772Renal angiomyolipoma2TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0010566HP:0010568Hamartoma of the eye2TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0010566HP:0006772Renal angiomyolipoma2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0010566HP:0010568Hamartoma of the eye2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0010566HP:0009716Subependymal nodules2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent2738
HP:0010566HP:0009717Cortical tubers2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent2738
HP:0010566HP:0009716Subependymal nodules2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0009717Cortical tubers2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0010568Hamartoma of the eye2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0006772Renal angiomyolipoma2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0010566HP:0010568Hamartoma of the eye2USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010566HP:0010568Hamartoma of the eye2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0010566HP:0010568Hamartoma of the eye2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0010566HP:0010568Hamartoma of the eye2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0010566HP:0002444Hypothalamic hamartoma2VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0010566HP:0100780Conjunctival hamartoma3AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0010566HP:0009594Retinal hamartoma3AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0010566HP:0009594Retinal hamartoma3CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0010566HP:0009594Retinal hamartoma3CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0010566HP:0009594Retinal hamartoma3DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0009594Retinal hamartoma3FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0010566HP:0009594Retinal hamartoma3IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0010566HP:0009594Retinal hamartoma3IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010566HP:0009594Retinal hamartoma3KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0010566HP:0100780Conjunctival hamartoma3KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0010566HP:0100780Conjunctival hamartoma3KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional100
HP:0010566HP:0100780Conjunctival hamartoma3KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional45
HP:0010566HP:0009594Retinal hamartoma3MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0010566HP:0009594Retinal hamartoma3MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0010566HP:0009737Lisch nodules3MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0010566HP:0009737Lisch nodules3NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0010566HP:0009594Retinal hamartoma3NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0010566HP:0009737Lisch nodules3NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0010566HP:0009737Lisch nodules3NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0010566HP:0009737Lisch nodules3NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0010566HP:0009737Lisch nodules3NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0010566HP:0009594Retinal hamartoma3NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0010566HP:0009594Retinal hamartoma3NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0010566HP:0100780Conjunctival hamartoma3PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0010566HP:0100780Conjunctival hamartoma3PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0010566HP:0009594Retinal hamartoma3PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0010566HP:0009594Retinal hamartoma3RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0010566HP:0009594Retinal hamartoma3SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0010566HP:0009594Retinal hamartoma3SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0010566HP:0100780Conjunctival hamartoma3SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0010566HP:0009594Retinal hamartoma3SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0010566HP:0100780Conjunctival hamartoma3SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0010566HP:0009594Retinal hamartoma3SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0010566HP:0100780Conjunctival hamartoma3SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0010566HP:0009594Retinal hamartoma3SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0010566HP:0100780Conjunctival hamartoma3SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0010566HP:0009594Retinal hamartoma3SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010566HP:0009594Retinal hamartoma3TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0010566HP:0009594Retinal hamartoma3TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0010566HP:0009594Retinal hamartoma3TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0010566HP:0009594Retinal hamartoma3TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0010566HP:0009594Retinal hamartoma3TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0010566HP:0009594Retinal hamartoma3TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010566HP:0100780Conjunctival hamartoma3USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0010566HP:0009594Retinal hamartoma3VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0010566HP:0009594Retinal hamartoma3VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0010566HP:0009594Retinal hamartoma3VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0010566HP:0030508Retinal cavernous hemangioma4 CL E G H
HP:0010566HP:0030510Combined hamartoma of the retinal pigment epithelium and retina4 CL E G H
HP:0010566HP:0030509Retinal racemose hemangioma4 CL E G H
HP:0010566HP:0009711Retinal capillary hemangioma4CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0010566HP:0009711Retinal capillary hemangioma4CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0010566HP:0009711Retinal capillary hemangioma4DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0010566HP:0009711Retinal capillary hemangioma4FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0010566HP:0012778Retinal astrocytic hamartoma4IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0010566HP:0009711Retinal capillary hemangioma4KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0010566HP:0009711Retinal capillary hemangioma4MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0010566HP:0009711Retinal capillary hemangioma4MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0010566HP:0009711Retinal capillary hemangioma4NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0010566HP:0009711Retinal capillary hemangioma4RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0010566HP:0009711Retinal capillary hemangioma4SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0010566HP:0009711Retinal capillary hemangioma4SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0010566HP:0009711Retinal capillary hemangioma4SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0010566HP:0009711Retinal capillary hemangioma4SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0010566HP:0009711Retinal capillary hemangioma4SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0010566HP:0009711Retinal capillary hemangioma4SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0010566HP:0009711Retinal capillary hemangioma4TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0010566HP:0012778Retinal astrocytic hamartoma4TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0010566HP:0012778Retinal astrocytic hamartoma4TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0010566HP:0009711Retinal capillary hemangioma4VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0010566HP:0009711Retinal capillary hemangioma4VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0010566HP:0009711Retinal capillary hemangioma4VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490


Genes (80) :ACTB ACVR1 ADAMTS3 AKT1 APC BMPR1A BRAF CCBE1 CCND1 CDC73 CDK4 CDKN1B COL18A1 CPLANE1 DIS3L2 DLST DYNC2LI1 FAM149B1 FAT4 FGF3 FGFR3 FH GCDH GLI3 GREM1 HRAS IDH1 IDH2 IFNG KANSL1 KIAA0753 KIF1B KIF7 KLLN KRT1 KRT10 MAN2C1 MAX MDH2 MSH3 MSH6 MVK NEK9 NF1 NF2 NRAS OFD1 PAK2 PCGF2 PDE6D PIK3CA PTCH1 PTCH2 PTEN PTH1R RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SIX6 SLC25A11 SMAD4 SMO SOX2 STK11 SUFU TCTN3 TFAP2A TIAM1 TMEM127 TMEM216 TOPORS TSC1 TSC2 USF3 VHL VPS16

Diseases (73) :ORPHA:64755 OMIM:135100 ORPHA:2136 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:176920 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:157794 ORPHA:79076 OMIM:610069 OMIM:115150 OMIM:613707 OMIM:155600 OMIM:613706 ORPHA:892 OMIM:193300 OMIM:145001 ORPHA:99880 ORPHA:143 OMIM:609048 ORPHA:276152 OMIM:610755 ORPHA:1571 ORPHA:2754 OMIM:277170 OMIM:267000 ORPHA:29072 OMIM:617088 ORPHA:2791 OMIM:162900 ORPHA:25 OMIM:146510 ORPHA:672 ORPHA:99646 ORPHA:296 ORPHA:805 OMIM:613254 ORPHA:363958 ORPHA:363965 OMIM:615107 ORPHA:312 OMIM:619775 ORPHA:480536 OMIM:619097 OMIM:260920 ORPHA:64754 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 ORPHA:637 OMIM:101000 OMIM:311200 OMIM:618371 OMIM:615108 OMIM:109400 ORPHA:109 OMIM:158350 ORPHA:137608 OMIM:206900 OMIM:175050 OMIM:241800 OMIM:175200 ORPHA:2753 OMIM:113620 OMIM:619908 ORPHA:538 OMIM:191100 OMIM:619291
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.