loading...| Preferred Name | renal tubular dysgenesis | |
| Synonyms |
primitive renal tubule syndrome renotubular dysgenesis |
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| Definitions |
Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017609 |
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| database_cross_reference |
SCTID:702397002 ICD10:Q63.8 GARD:0000379 Orphanet:3033 |
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| exactMatch |
http://identifiers.org/snomedct/702397002 |
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| has exact synonym |
primitive renal tubule syndrome renotubular dysgenesis |
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| id |
MONDO:0017609 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
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| label |
renal tubular dysgenesis |
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| notation |
MONDO:0017609 |
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| prefLabel |
renal tubular dysgenesis |
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| textual definition |
Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. |
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| subClassOf |