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| Term | prune belly syndrome | ID (Ontology) | DOID:0060889 (Human Disease) |
| Definition | A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. | ||
| Also Known As | "abdominal muscle deficiency syndrome" ; "Eagle-Barrett syndrome" ; "Obrinsky syndrome" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| prune belly syndrome 1 rec. |
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| Is a |
autosomal recessive disease syndrome |
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External Crossreferences & Linkouts
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GARD:7479 ICD10CM:Q79.4 MESH:D011535 MIM:100100 ORDO:2970 |
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