loading...| Preferred Name |
RENAL TUBULAR DYSGENESIS |
| Synonyms |
RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA |
| ID |
http://purl.bioontology.org/ontology/OMIM/267430 |
| altLabel |
RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA RTD PRIMITIVE RENAL TUBULE SYNDROME |
| cui |
C0266313 C2678367 |
| Gene Locus |
1q32 |
| Gene Symbol |
ADTKD4 REN RTD |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022979 http://purl.bioontology.org/ontology/OMIM/MTHU022973 http://purl.bioontology.org/ontology/OMIM/MTHU013976 http://purl.bioontology.org/ontology/OMIM/MTHU022971 http://purl.bioontology.org/ontology/OMIM/MTHU022977 http://purl.bioontology.org/ontology/OMIM/MTHU022980 http://purl.bioontology.org/ontology/OMIM/MTHU009025 http://purl.bioontology.org/ontology/OMIM/MTHU012488 http://purl.bioontology.org/ontology/OMIM/MTHU010082 http://purl.bioontology.org/ontology/OMIM/MTHU022972 http://purl.bioontology.org/ontology/OMIM/MTHU022978 http://purl.bioontology.org/ontology/OMIM/MTHU022976 http://purl.bioontology.org/ontology/OMIM/MTHU022974 http://purl.bioontology.org/ontology/OMIM/MTHU022982 http://purl.bioontology.org/ontology/OMIM/MTHU022981 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
267430 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RENAL TUBULAR DYSGENESIS |
| Scope Statement |
Caused by mutation in the angiotensin II receptor type 1 gene (AGTR1, 106165.0003) [MOLECULAR BASIS] Caused by mutation in the angiotensinogen gene (AGT, 106150.0003) [MOLECULAR BASIS] Caused by mutation in the angiotensin-converting enzyme gene (ACE, 106180.0003) [MOLECULAR BASIS] Caused by mutation in the renin gene (REN, 179820.0002) [MOLECULAR BASIS] Affected infants often die in utero or in the postnatal period [MISCELLANEOUS] |
| tui |
T047 |