Search Ontology:
Human Disease
acrofacial dysostosis Rodriguez type
- Term ID
- DOID:0060383
- Synonyms
-
- acrofacial dysostosis, syndrome of Rodriguez
- Definition
- An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type
- References
-
- GARD:496
- MESH:C538183
- MIM:201170
- ORDO:1788
- SNOMEDCT_US_2023_03_01:720430002
- UMLS_CUI:C1860119
- Ontology
- Human Disease ( DOID:0060383 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models