FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Meckel syndrome ID (Ontology) DOID:0050778 (Human Disease)
Definition A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Also Known As "Meckel-Gruber syndrome"
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Spanning Tree (Parents/Children)
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monogenic disease__
syndrome___________|
                   ciliopathy
                    |__Meckel syndrome  6 rec.
                        |__Meckel syndrome 1 1 rec.
                        |__Meckel syndrome 2 2 rec.
                        |__Meckel syndrome 3 1 rec.
                        |__Meckel syndrome 4 1 rec.
                        |__Meckel syndrome 5
                        |__Meckel syndrome 6 1 rec.
                        |__Meckel syndrome 7
                        |__Meckel syndrome 8
                        |__Meckel syndrome 13
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Synonyms
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Secondary IDs
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GARD:3436
ICD9CM:753.1
MIM:PS249000
ORDO:564
SNOMEDCT_US_2023_03_01:204954005
UMLS_CUI:C0311245