"Chondrodysplasia Punctata" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
- Chondrodysplasia Punctata
- Stippled Epiphyses
- Epiphyses, Stippled
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Conradi Hunermann Happle Syndrome
- Happle Syndrome
- X-Linked Dominant Chondrodysplasia Punctata
- X Linked Dominant Chondrodysplasia Punctata
- X-Linked Chondrodysplasia Punctata 2
- X Linked Chondrodysplasia Punctata 2
- Chondrodysplasia Punctata 2, X-Linked
- Chondrodysplasia Punctata 2, X Linked
- Conradi-Hünermann Syndrome
- Conradi Hünermann Syndrome
- Conradi-Hünermann Syndromes
- Conradi-Hünermann-Happle Syndrome
- Conradi Hünermann Happle Syndrome
- Conradi-Hünermann-Happle Syndromes
- Chondrodysplasia Punctata 2, X-Linked Dominant
- Chondrodysplasia Punctata 2, X Linked Dominant
- Conradi-Hunermann-Happle Syndrome
- Conradi-Hunermann-Happle Syndromes
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".
This graph shows the total number of publications written about "Chondrodysplasia Punctata" by people in this website by year, and whether "Chondrodysplasia Punctata" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.