HPO
Db Link Name Definition Comment Is a
HPO HP:0005661 Salmonella osteomyelitis "Osteomyelitis caused by infection with the bacteria, salmonella." [PMID:26668420] HP:0002754
HPO HP:0005665 Massively thickened long bone cortices "Extreme thickening of the cortex of long bones." [HPO:curators] HP:0000935
HPO HP:0005667 Os odontoideum "Separation of the odontoid process from the body of the axis." [HPO:probinson, PMID:21543665, PMID:22224150] With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits. HP:0003310
HPO HP:0005671 Bilateral intracerebral calcifications "Deposition of calcium salts on both sides of the brain." [HPO:probinson] HP:0002514
HPO HP:0005676 Rudimentary postaxial polydactyly of hands HP:0001162
HPO HP:0005678 Anterior atlanto-occipital dislocation HP:0003414
HPO HP:0005679 Dupuytren contracture "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints." [HPO:probinson] A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. HP:0009473
HPO HP:0005680 Tongue-like lumbar vertebral deformities "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies." [PMID:25349664] HP:0008430
HPO HP:0005681 Juvenile rheumatoid arthritis HP:0001370
HPO HP:0005682 Talocalcaneal synostosis HP:0008368
HPO HP:0005684 Distal arthrogryposis "An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function." [HPO:probinson, PMID:8923935] HP:0002803
HPO HP:0005686 Patchy osteosclerosis "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] HP:0010658, HP:0011001
HPO HP:0005687 Deformed humeral heads HP:0003871
HPO HP:0005688 Dysplastic distal thumb phalanges with a central hole HP:0009617
HPO HP:0005689 Dermatoglyphic ridges abnormal HP:0001018
HPO HP:0005692 Joint hyperflexibility "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles." [https://orcid.org/0000-0002-6548-5200] HP:0001382
HPO HP:0005694 Partial fusion of proximal row of carpal bones HP:0009702
HPO HP:0005696 Postaxial polydactyly type A "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal." [HPO:probinson] HP:0001162
HPO HP:0005700 Increased bone density with cystic changes HP:0011001
HPO HP:0005701 Multiple enchondromatosis HP:0002763, HP:0030038
HPO HP:0005707 Bilateral triphalangeal thumbs "A bilateral form of triphalangeal thumb." [HPO:probinson] HP:0001199
HPO HP:0005709 2-3 toe cutaneous syndactyly HP:0010621
HPO HP:0005715 Flattened knee epiphyses HP:0002815, HP:0003071
HPO HP:0005716 Lethal skeletal dysplasia HP:0002652
HPO HP:0005720 Shortening of all metacarpals "Abnormal reduction in length of all metacarpal bones." [HPO:probinson] HP:0010049