Acromesomelic Dysplasia 3 (AMD3)

Alias:

Chondrodysplasia, Acromesomelic, with or Without Genital Anomalies

Acromesomelic Dysplasia, Demirhan Type

Amd3

Amdd

Acromesomelic Chondrodysplasia, with Genital Anomalies

Dysplasia, Acromesomelic, Type 3, Demirhan

Demirhan-Type Acromesomelic Dysplasia

Acromesomelic Dysplasia-3

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Acromesomelic Dysplasia 3, also known as chondrodysplasia, acromesomelic, with or without genital anomalies, is related to brachydactyly, type a2 and brachydactyly. An important gene associated with Acromesomelic Dysplasia 3 is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B). Affiliated tissues include bone and uterus, and related phenotypes are delayed skeletal maturation and primary amenorrhea

Related ID：

MALACARDS：ACR129

OMIM：609441

MESH：D004392