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Disease association ontology term - MONDO:0019054 - congenital limb malformation

Term summary

ID
MONDO:0019054
Name
congenital limb malformation
Ontology or CV name
Disease association

Parents

Annotation

Disease association

MONDO:0014651 - acrofacial dysostosis Cincinnati type

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MONDO:0013895 - Adams-Oliver syndrome 3

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MONDO:0012282 - Al-Gazali syndrome

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MONDO:0032903 - arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

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MONDO:0030281 - arthrogryposis multiplex congenita 6

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MONDO:0975826 - arthrogryposis multiplex congenita 7, X-linked

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MONDO:0030847 - arthrogryposis, distal, type 1C

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MONDO:0032751 - arthrogryposis, distal, type 2B3

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MONDO:0008822 - arthrogryposis, renal dysfunction, and cholestasis 1

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MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

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MONDO:0014248 - autism spectrum disorder - epilepsy - arthrogryposis syndrome

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MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

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MONDO:0008338 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

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MONDO:0020746 - contractures, pterygia, and variable skeletal fusions syndrome 1B

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MONDO:0016033 - Cornelia de Lange syndrome

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MONDO:0007387 - Cornelia de Lange syndrome 1

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MONDO:0010370 - Cornelia de Lange syndrome 2

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MONDO:0012555 - Cornelia de Lange syndrome 3

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MONDO:0013864 - Cornelia de Lange syndrome 4

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MONDO:0957921 - Cornelia de Lange syndrome 6

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MONDO:0100101 - fetal akinesia deformation sequence 1

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MONDO:0100104 - fetal akinesia deformation sequence 4

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MONDO:0008675 - Freeman-Sheldon syndrome

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MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

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MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

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MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

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MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

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MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

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MONDO:0010532 - infantile-onset X-linked spinal muscular atrophy

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MONDO:0012750 - lethal arthrogryposis-anterior horn cell disease syndrome

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MONDO:0009670 - lethal congenital contracture syndrome 1

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MONDO:0012656 - lethal congenital contracture syndrome 3

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MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

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MONDO:0007943 - Nager acrofacial dysostosis

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MONDO:0009903 - postaxial acrofacial dysostosis

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MONDO:0009955 - rapadilino syndrome

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MONDO:0014806 - spinal muscular atrophy with congenital bone fractures 1

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MONDO:0014807 - spinal muscular atrophy with congenital bone fractures 2

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MONDO:0010408 - syndactyly-telecanthus-anogenital and renal malformations syndrome

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MONDO:0014848 - TELO2-related intellectual disability-neurodevelopmental disorder

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MONDO:0010121 - thrombocytopenia-absent radius syndrome

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MONDO:0008016 - trismus-pseudocamptodactyly syndrome

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