Term ID:
9537
Name:
Flexion contracture of the 2nd finger
Synonym:
Joint contractures of the 2nd finger
Definition:
Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.
Comments:
Reference:
HP:0009537
Genes and Diseases: Child Nodes: ........Contracture of the distal interphalangeal joint of the 2nd finger (HP:0009538) ........Contracture of the metacarpophalangeal joint of the 2nd finger (HP:0009539) ........Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540) Sister Nodes: ..Flexion contracture of thumb (HP:0009600) ..Interphalangeal joint contracture of finger (HP:0001220) ..Joint contracture of the 3rd finger (HP:0009319) ..Joint contracture of the 4th finger (HP:0009274) ..Joint contracture of the 5th finger (HP:0009183) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0009537 HP:0009537 Flexion contracture of the 2nd finger 0 LFNG CL E G H 3955 6560 OMIM:609813 Spondylocostal dysostosis 3, autosomal recessive 13 HP:0009537 HP:0009537 Flexion contracture of the 2nd finger 0 PLOD3 CL E G H 8985 9083 OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness 5 HP:0009537 HP:0009537 Flexion contracture of the 2nd finger 0 RPL10 CL E G H 6134 10298 OMIM:300998 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 10 HP:0009537 HP:0009539 Contracture of the metacarpophalangeal joint of the 2nd finger 1 CL E G H HP:0009537 HP:0009538 Contracture of the distal interphalangeal joint of the 2nd finger 1 CL E G H HP:0009537 HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger 1 LFNG CL E G H 3955 6560 OMIM:609813 Spondylocostal dysostosis 3, autosomal recessive 13 HP:0009537 HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger 1 PLOD3 CL E G H 8985 9083 OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness 5 HP:0009537 HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger 1 RPL10 CL E G H 6134 10298 OMIM:300998 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 10
Genes (3) :LFNG PLOD3 RPL10 Diseases (3) :OMIM:609813 OMIM:612394 OMIM:300998
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.