Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (OSMEDA)

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant(来自ICD-11)

别称:

Weissenbacher-Zweymuller Syndrome

Pierre Robin Syndrome with Fetal Chondrodysplasia

Wzs

Stickler Syndrome, Type 3

Heterozygous Osmed

Osmeda

Pierre Robin Syndrome with Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant

Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

Heterozygous Otospondylomegaepiphyseal Dysplasia

Stickler Syndrome, Type Iii, Formerly

Stickler Syndrome, Non-Ocular Type

Weissenbacher-Zweymueller Syndrome

Weissenbacher-Zweymüller Syndrome

Stickler Syndrome Non-Ocular Type

Stickler Syndrome, Type Iii

Stickler Syndrome Type Iii

Pierre Robin Malformation

Stickler Syndrome Type 3

Stickler-Like Syndrome

Pierre Robin Syndrome

Piere-Robin Syndrome

Osmed, Heterozygous

Stickler Syndrome 3

Stl3, Formerly

Ad Osmed

Stl3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and cleft palate, isolated, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Temazepam and D-Threonine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are sensorineural hearing impairment and cleft palate

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