camptodactyly-tall stature-scoliosis-hearing loss syndrome
autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16
Press Enter · cited answer in seconds
0 sources
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Summary
camptodactyly-tall stature-scoliosis-hearing loss syndrome is a developmental defect during embryogenesis[1].
Key Facts
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's instance of is recorded as rare disease[3].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's instance of is recorded as class of disease[4].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome is a type of autosomal genetic disease[5].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome is a type of FGFR3-related chondrodysplasia[6].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome is a type of dysostosis with predominant vertebral and costal involvement[7].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome is a type of syndrome[8].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's genetic association is recorded as FGFR3[9].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111160[10].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111160[11].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_85164[12].
- camptodactyly-tall stature-scoliosis-hearing loss syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].