loading...| Preferred Name | hereditary nephritis | |
| Synonyms |
nephritis, familial familial nephritis nephritis, hereditary hereditary nephritis |
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| Definitions |
A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0004128 |
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| database_cross_reference |
MONDO:0005334 SCTID:399340005 MEDGEN:10305 MeSH:D009394 UMLS:C0027706 MESH:D009394 |
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| definition |
A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE. |
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| has_exact_synonym |
nephritis, hereditary hereditary nephritis |
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| has_related_synonym |
nephritis, familial familial nephritis |
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| id |
EFO:0004128 |
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| label |
hereditary nephritis |
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| notation |
EFO:0004128 |
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| preferred label |
hereditary nephritis |
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| prefLabel |
hereditary nephritis |
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| skos_exactMatch |
http://identifiers.org/mesh/D009394 http://identifiers.org/snomedct/399340005 |
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| term editor |
Catherine Leroy |
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| subClassOf |