Acromesomelic Dysplasia 2c (AMD2C)

Alias:

Acromesomelic Dysplasia, Hunter-Thompson Type

Acromesomelic Dysplasia 2c, Hunter-Thompson Type

Acromesomelic Dwarfism

Amd2c

Acromesomelic Chondrodysplasia, Hunter-Thompson Type

Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson

Acromesomelic Dysplasia Hunter Thompson Type

Acromesomelic Dysplasia Hunter-Thompson Type

Amdh Acromesomelic Dwarfism

Acromesomelic Dysplasia-2c

Amdh

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Acromesomelic Dysplasia 2c, also known as acromesomelic dysplasia, hunter-thompson type, is related to acromesomelic dysplasia 1 and acromesomelic dysplasia. An important gene associated with Acromesomelic Dysplasia 2c is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are 10q11.21q11.23 copy number variation syndrome and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include bone and hand, and related phenotypes are brachydactyly and bilateral single transverse palmar creases

Related ID：

MALACARDS：ACR126

OMIM：201250

MESH：D004392