Metaphyseal Dysplasia without Hypotrichosis

Also Known As:

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only; Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Metaphyseal Dysplasia without Hypotrichosis: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Metaphyseal Dysplasia without Hypotrichosis: 1

Experts

1.	Cho, Won Kyoung: 1 article (05/2021)
2.	Hyun, Hyesun: 1 article (05/2021)
3.	Ki, Chang-Seok: 1 article (05/2021)
4.	Lee, Jung Hyun: 1 article (05/2021)
5.	Namgoong, Ho: 1 article (05/2021)
6.	Oh, Jin-Hee: 1 article (05/2021)
7.	Yoo, Il Han: 1 article (05/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Metaphyseal Dysplasia without Hypotrichosis:

1.	RNA (Ribonucleic Acid)IBA 05/01/2021 - "Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea."
2.	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 05/01/2021 - "Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea."