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Term:
PTEN hamartoma tumor syndrome (DOID:0080191)
Annotations: Rat: (26) Mouse: (27) Human: (36) Chinchilla: (26) Bonobo: (29) Dog: (27) Squirrel: (26) Pig: (25)
Parent Terms Term With Siblings Child Terms
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Birt-Hogg-Dube syndrome  
Brooke-Spiegler syndrome  
Capillary Hemangioma, Infantile  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
Congenital Symmetric Circumferential Skin Creases +   
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
dysplastic nevus syndrome +   
familial adenomatous polyposis +   
Familial Cancer with In Vitro Radioresistance 
familial chronic myelocytic leukemia-like syndrome  
Familial Cutaneous Collagenoma  
familial meningioma +   
Familial Multiple Trichodiscomas 
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
Genochondromatosis 
Giant Mammary Hamartoma 
Hamartoma, Precalcaneal Congenital Fibrolipomatous 
Hamartomatous Lip 
hereditary breast ovarian cancer syndrome  
Hereditary Leiomyomatosis and Renal Cell Cancer  
hereditary multiple exostoses +   
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
Hypothalamic Hamartomas  
Intestinal Polyposis, with Multiple Exostoses 
juvenile polyposis syndrome +   
Li-Fraumeni syndrome +   
Lynch syndrome +   
Melanoma-Pancreatic Cancer Syndrome  
Microgastria Limb Reduction Defect 
multiple endocrine neoplasia +   
nephroblastoma +   
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Pallister-Hall syndrome +   
Paragangliomas 2  
Paragangliomas 3  
Peutz-Jeghers syndrome  
PTEN hamartoma tumor syndrome +   
A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)
tuberous sclerosis +   
Turcot Syndrome  

Synonyms
Exact Synonyms: CS ;   Multiple Hamartoma Syndrome ;   PTEN hamartoma tumor syndrome with granular cell tumor ;   multiple hamartoma syndromes
Narrow Synonyms: Colorectal hamartomatous polyposis and ganglioneuromatosis ;   MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM ;   PROTEUS-like syndrome ;   cerebellar granule cell hypertrophy and megalencephaly ;   cerebelloparenchymal disorder VI
Primary IDs: MESH:D006223
Alternate IDs: MESH:C566636 ;   OMIA:001515
Xrefs: GARD:12800
Definition Sources: https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22628360 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.