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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/177735
http://purl.bioontology.org/ontology/OMIM/177735
|
|---|---|
| Preferred Name | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT |
| Synonyms |
PHA1A
PHA I, AUTOSOMAL DOMINANT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PHA1A
PHA I, AUTOSOMAL DOMINANT
|
|---|---|
| prefLabel | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
|
| Gene Symbol |
MCR
MLR
NR3C2
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the nuclear receptor subfamily 3, group C, member 2 gene (NR3C2, 600983.0001) [MOLECULAR BASIS]
Some patients may be clinically asymptomatic [MISCELLANEOUS]
Favorable response to sodium chloride treatment [MISCELLANEOUS]
Improvement with age [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q31.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 177735
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1449842
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |