loading...| Preferred Name | RENAL TUBULAR DYSGENESIS | |
| Synonyms |
PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA RTD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/267430 |
|
| altLabel |
PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA RTD |
|
| cui |
C0266313 C2678367 |
|
| Gene Locus |
1q32 |
|
| Gene Symbol |
RTD ADTKD4 REN |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022980 http://purl.bioontology.org/ontology/OMIM/MTHU022972 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU013976 http://purl.bioontology.org/ontology/OMIM/MTHU009025 http://purl.bioontology.org/ontology/OMIM/MTHU010082 http://purl.bioontology.org/ontology/OMIM/MTHU012488 http://purl.bioontology.org/ontology/OMIM/MTHU022979 http://purl.bioontology.org/ontology/OMIM/MTHU022978 http://purl.bioontology.org/ontology/OMIM/MTHU022974 http://purl.bioontology.org/ontology/OMIM/MTHU022976 http://purl.bioontology.org/ontology/OMIM/MTHU022971 http://purl.bioontology.org/ontology/OMIM/MTHU022981 http://purl.bioontology.org/ontology/OMIM/MTHU022973 http://purl.bioontology.org/ontology/OMIM/MTHU022977 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
267430 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
RENAL TUBULAR DYSGENESIS |
|
| Scope Statement |
Affected infants often die in utero or in the postnatal period [MISCELLANEOUS] Caused by mutation in the renin gene (REN, 179820.0002) [MOLECULAR BASIS] Caused by mutation in the angiotensin-converting enzyme gene (ACE, 106180.0003) [MOLECULAR BASIS] Caused by mutation in the angiotensinogen gene (AGT, 106150.0003) [MOLECULAR BASIS] Caused by mutation in the angiotensin II receptor type 1 gene (AGTR1, 106165.0003) [MOLECULAR BASIS] |
|
| tui |
T047 |