loading...| Preferred Name | RENAL TUBULAR ACIDOSIS, DISTAL, 1 | |
| Synonyms |
DRTA1 RTA, DISTAL TYPE, AUTOSOMAL DOMINANT RENAL TUBULAR ACIDOSIS I RTA, CLASSIC TYPE RTA, GRADIENT TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/179800 |
|
| altLabel |
DRTA1 RTA, DISTAL TYPE, AUTOSOMAL DOMINANT RENAL TUBULAR ACIDOSIS I RTA, CLASSIC TYPE RTA, GRADIENT TYPE |
|
| cui |
C1704380 |
|
| Gene Locus |
17q21-q22 |
|
| Gene Symbol |
SAO AE1 SPH4 SLC4A1 CHC EPB3 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU071436 http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU071433 http://purl.bioontology.org/ontology/OMIM/MTHU071434 http://purl.bioontology.org/ontology/OMIM/MTHU071437 http://purl.bioontology.org/ontology/OMIM/MTHU023248 http://purl.bioontology.org/ontology/OMIM/MTHU071438 http://purl.bioontology.org/ontology/OMIM/MTHU007103 http://purl.bioontology.org/ontology/OMIM/MTHU005834 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
179800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
RENAL TUBULAR ACIDOSIS, DISTAL, 1 |
|
| Scope Statement |
Onset adolescence to adulthood [MISCELLANEOUS] Caused by mutations in the solute carrier family 4 (anion exchanger), member 1 gene (SLC4A1, 109270.0012) [MOLECULAR BASIS] |
|
| tui |
T047 |