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| Term | acrofacial dysostosis, Catania type | ID (Ontology) | DOID:0060384 (Human Disease) |
| Definition | An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. | ||
| Also Known As | "Opitz Mollica Sorge syndrome" ; "Opitz-Caltabiano syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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dysostosis |__acrofacial dysostosis |__acrofacial dysostosis, Catania type |
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| Is a | acrofacial dysostosis | ||
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External Crossreferences & Linkouts
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GARD:494 MESH:C538182 MIM:101805 ORDO:1786 SNOMEDCT_US_2023_03_01:720419000 UMLS_CUI:C2931762 |
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