otospondylomegaepiphyseal dysplasia ^{الإنجليزية} (Q5533462)

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 ^{الإنجليزية}

اللغة	التسمية	الوصف	أسماء أخرى
العربية	لم تُضف التسمية	لا يوجد وصف
الإنجليزية	otospondylomegaepiphyseal dysplasia	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	CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED OSMED otospondylomegaepiphyseal dysplasia, autosomal recessive

بيانات

Wikidata item ^{الإنجليزية}

Q7109017

٠ مرجع

وصلات الموقع

Marefa(٠ : لا وصلات)

ويكيبيديا(١ وصلة واحدة)

enwiki Otospondylomegaepiphyseal dysplasia