BabelNet

bn:01924960n

Noun Concept

Categories: Autosomal recessive disorders, Rare diseases, Collagen disease

otospondylomegaepiphyseal dysplasia Osmed syndrome CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS Insley-Astley syndrome Mega-epiphyseal dwarfism

Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. Wikipedia

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Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. Wikipedia

Osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss Wikidata

IS A

rare disease

osteochondrodysplasia

collagen hereditary disease

autosomal recessive disease

GENETIC ASSOCIATION

COL11A2

HEALTH SPECIALTY

medical genetics

Wikipedia

otospondylomegaepiphyseal dysplasia

Wikidata

otospondylomegaepiphyseal dysplasia

Wikipedia Redirections

Chondrodystrophy with sensorineural deafness, Insley-Astley syndrome, Mega-epiphyseal dwarfism, Megaepiphyseal dwarfism, Nance-Insley syndrome, Nance-Sweeney chondrodysplasia, OSMED, Osmed Syndrome, Osmed syndrome, Oto-spondylo-megaepiphyseal dysplasia

Wikidata Alias

CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS, NANCE-INSLEY SYNDROME, NANCE-SWEENEY CHONDRODYSPLASIA, OSMED, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, otospondylomegaepiphyseal dysplasia, autosomal recessive, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED