- Kniest dysplasia
- (nēst) [Wilhelm Kniest, German pediatrician, born 1919] see under dysplasia.
Medical dictionary. 2011.
Medical dictionary. 2011.
Kniest dysplasia — Classification and external resources ICD 10 Q77.8 OMIM 156550 DiseasesDB … Wikipedia
Kniest dysplasia — a rare autosomal dominant collagen disease caused by mutation in the COL2A1 gene (locus: 12q13.11 q13.2), which encodes type II collagen; characteristics include short stature with skeletal abnormalities such as kyphoscoliosis, depressed nasal… … Medical dictionary
Multiple epiphyseal dysplasia — Classification and external resources ICD 9 756.56 OMIM 132400 226900 … Wikipedia
Otospondylomegaepiphyseal dysplasia — Classification and external resources OMIM 215150 DiseasesDB 32024 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive … Wikipedia
Collagen, type II, alpha 1 — (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) Identifiers Symbol COL2A1 Alt. symbols SEDC Entrez … Wikipedia
COL2A1 — protein Name=collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) caption= width= HGNCid=2200 Symbol=COL2A1 AltSymbols=SEDC EntrezGene=1280 OMIM=120140 RefSeq=NM 001844 UniProt=P02458 PDB= ECnumber=… … Wikipedia
Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система … Википедия
Collagenopathy, types II and XI — The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body s joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex… … Wikipedia
Nonsyndromic deafness — is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of… … Wikipedia
Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or … Wikipedia