Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613090
http://purl.bioontology.org/ontology/OMIM/613090
|
|---|---|
| Preferred Name | BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS |
| Synonyms |
BARTS4B
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | BARTS4B
|
|---|---|
| prefLabel | BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
|
| Gene Symbol | CLCNKA
|
| Scope Statement | Severe volume depletion [MISCELLANEOUS]
See also antenatal Bartter syndrome type 1 (601678) and Bartter syndrome type 2 (241200) [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Onset in utero [MISCELLANEOUS]
Caused by simultaneous homozygous mutations in both the chloride channel, kidney, A gene (CLCNKA, 602024.0001) and chloride channel, kidney, B gene (CLCNKB, 602023.0008) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 1p36
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613090
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310805
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |