Search Ontology:
Human Disease
acrofacial dysostosis, Catania type
- Term ID
- DOID:0060384
- Synonyms
-
- Opitz Mollica Sorge syndrome
- Opitz-Caltabiano syndrome
- Definition
- An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type
- References
-
- GARD:494
- MESH:C538182
- MIM:101805
- ORDO:1786
- SNOMEDCT_US_2023_03_01:720419000
- UMLS_CUI:C2931762
- Ontology
- Human Disease ( DOID:0060384 )
- is a type of
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Genes Involved
Zebrafish Models