Disease #01326

Official abbreviation EXT-2
Name exostoses, multiple, type 2 (EXT-2)
OMIM ID 133701
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 40
Phenotype entries for this disease 40
Associated with 1 gene EXT2
Associated tissues -
Disease features -
Remarks -


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00208710 - Fusco, submitted - F - Italy caucasian 32y 0 - - EXT-2 humerus (right), femur (bilateral), fibula (bilateral), tibia (bilateral) EXT2 - 0 1 Carmela Fusco
00208711 - Fusco, submitted - F - Italy caucasian 37y 0 - - EXT-2 femur (bilateral), fibula (bilateral), tibia (bilateral), ribs (right), lipomas EXT2 - 0 1 Carmela Fusco
00208712 - Fusco, submitted - M - Italy caucasian 13y 0 - - EXT-2 fibula, tibia, ribs (bilateral), pseudo nodular subcutaneous formations EXT2 - 0 1 Carmela Fusco
00208713 - Fusco, submitted - F - Italy caucasian 45y 0 - - EXT-2 humerus, radius (HP:00039), tibia EXT2 - 0 1 Carmela Fusco
00208714 - Fusco, submitted - M - Italy caucasian 9y 0 - - EXT-2 femur (left) EXT2 - 0 1 Carmela Fusco
00208715 - Fusco, submitted - F - Italy caucasian 13y 0 - - EXT-2 humerus (left) EXT2 - 0 1 Carmela Fusco
00208716 - Fusco, submitted - M - Italy caucasian 7y 0 - - EXT-2 humerus, femur (right), tibia (left) EXT2 - 0 1 Carmela Fusco
00208717 - Fusco, submitted - M - Italy caucasian 74y 0 - - EXT-2 scapula EXT2 - 0 1 Carmela Fusco
00208718 - Fusco, submitted - M - Italy caucasian 36y 0 - - EXT-2 femur (bilateral), knee (bilateral), tibia (bilateral), scapula EXT2 - 0 1 Carmela Fusco
00208719 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208720 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208721 - Fusco, submitted - F - Italy caucasian 38y 0 - - EXT-2 radius (HP:00039, left), ulna (HP:00039, left), femur (right), fibula (right), tibia (bilateral), scapula, deformities radius and ulna shortening; distal synostosis of the fibula and tibia EXT2 - 0 1 Carmela Fusco
00208722 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208723 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208724 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208725 - Fusco, submitted - M - Italy caucasian 65y 0 - - EXT-2 knee (bilateral) EXT2 - 0 1 Carmela Fusco
00208726 - Fusco, submitted - F - Italy caucasian 27y 0 - - EXT-2 phalanges, calcaneus (bilateral), scapula (right) EXT2 - 0 1 Carmela Fusco
00208727 - Fusco, submitted - M - Italy caucasian 25y 0 - - EXT-2 humerus (right) femur (bilateral) EXT2 - 0 1 Carmela Fusco
00208728 - Fusco, submitted - M - Italy caucasian 43y 0 - - EXT-2 humerus (bilateral), tibia (bilateral) EXT2 - 0 1 Carmela Fusco
00208729 - Fusco, submitted - M - Italy caucasian 24y 0 - - EXT-2 humerus (bilateral), radius (HP:00039, left), ulna (HP:00039, bilateral), femur (bilateral), fibula (bilateral), tibia (bilateral) EXT2 - 0 1 Carmela Fusco
00208730 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208731 - Fusco, submitted - M - Italy caucasian 18y 0 - - EXT-2 femur (right) EXT2 - 0 1 Carmela Fusco
00208732 - Fusco, submitted - F - Italy caucasian 17y 0 - - EXT-2 ulna (HP:00039) EXT2 - 0 1 Carmela Fusco
00208733 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208734 - Fusco, submitted - F - Italy caucasian 38y 0 - - EXT-2 humerus, carpals (bilateral), metacarpals (bilateral), phalanges (bilateral), femur, knee (bilateral), talus (bilateral), calcaneus (bilateral), phalanges (foot, bilateral), scapula EXT2 - 0 1 Carmela Fusco
00208735 - Fusco, submitted - F - Italy caucasian 38y 0 - - EXT-2 humerus, carpals (bilateral), metacarpals (bilateral), phalanges (bilateral), femur, knee EXT2 - 0 1 Carmela Fusco
00208736 - Fusco, submitted - M - Italy caucasian 33y 0 - - EXT-2 humerus (bilateral), radius (HP:00039, bilateral), ulna (HP:00039, bilateral), femur (bilateral), knee (bilateral), fibula (bilateral), tibia (bilateral) EXT2 - 0 1 Carmela Fusco
00208737 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208738 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208739 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208740 - Fusco, submitted - M - Italy caucasian 21y 0 - - EXT-2 radius (HP:00039, right), ulna (HP:00039, left), metacarpals (left), phalanges (right), femur (bilateral), tibia (bilateral), ribs (bilateral) EXT2 - 0 1 Carmela Fusco
00208741 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208742 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208743 - Fusco, submitted - - - Italy caucasian - 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208744 - Fusco, submitted - M - Italy caucasian 57y 0 - - EXT-2 - EXT2 - 0 1 Carmela Fusco
00208745 - Fusco, submitted - M - Italy caucasian 18y 0 - - EXT-2 humerus (bilateral), radius (HP:00039, bilateral), ulna (HP:00039, bilateral), femur (bilateral), knee (bilateral), fibula (bilateral), tibia (bilateral), valgus knees EXT2 - 0 1 Carmela Fusco
00208746 - Fusco, submitted - F - Italy caucasian 30y 0 - - EXT-2 humersu (left), carpals, femur (bilateral), knee (bilateral), fibula (left), tibia (bilateral), talus (bilateral), scapula, ribs (right) EXT2 - 0 1 Carmela Fusco
00208747 - Fusco, submitted - F - Italy caucasian 30y 0 - - EXT-2 ulna (HP:00039, right), phalanges (right), femur (bilateral), fibula (bilateral), tibia (bilateral), clavicular (bilateral), scapula (bilateral) EXT2 - 0 1 Carmela Fusco
00208748 - Fusco, submitted - F - Italy caucasian 24y 0 - - EXT-2 humerus (right), phalanges (bilateral), femur (bilateral), fibula (bilateral), tibia (bilateral), scapula (right) EXT2 - 0 1 Carmela Fusco
00208749 - Fusco, submitted - F - Italy caucasian 51y 0 - - EXT-2 humerus (left), femur (bilateral), fibula (left), tibia (bilateral), ribs EXT2 - 0 1 Carmela Fusco
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