loading...| Preferred Name |
Nephritis, Hereditary |
|
| Synonyms |
Hematuria, Congenital Hereditary |
|
| 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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009394 |
|
| altLabel |
Hematuria, Congenital Hereditary Nephritis, Hemorrhagic Hereditary Syndrome, Alport Hemorrhagic Familial Nephritis Nephritis, Hemorrhagic Familial Hereditary Familial Congenital Hemorrhagic Nephritis Syndrome, Hematuria-Nephropathy-Deafness Alport Syndrome, X-Linked Nephritis, Familial Hematuria Nephropathy Deafness Syndrome Hereditary Nephritis Alport Syndrome, Autosomal Dominant Hematuria-Nephropathy-Deafness Syndrome Alport Syndrome, X Linked Alport Syndrome, Autosomal Recessive Hereditary Interstitial Pyelonephritis Hematuric Hereditary Nephritis X-Linked Alport Syndrome Hemorrhagic Hereditary Nephritis Alport Syndrome Congenital Hereditary Hematuria Nephritis, Hematuric Hereditary Pyelonephritis, Hereditary Interstitial Alport's Syndrome Hereditary Hematuria Syndrome Familial Nephritis |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1567744 C0027706 C1567741 C1567742 C2931861 C1567743 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19700101 |
|
| HN |
77; was ALPORT'S SYNDROME 1964-76 (Prov 1964-69) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
77; was ALPORT'S SYNDROME 1970-76 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C562889 http://purl.bioontology.org/ontology/MESH/C563713 http://purl.bioontology.org/ontology/MESH/C564570 http://purl.bioontology.org/ontology/MESH/C535768 http://purl.bioontology.org/ontology/MESH/C536586 http://purl.bioontology.org/ontology/MESH/C536587 http://purl.bioontology.org/ontology/MESH/C562890 http://purl.bioontology.org/ontology/MESH/C537113 |
|
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C12.200.706.742 C12.050.351.875.742 C12.800.742 C17.300.200.517 C16.131.939.742 C12.950.419.570.620 C12.050.351.968.419.570.620 C12.200.777.419.570.620 |
|
| notation |
D009394 |
|
| OL |
use NEPHRITIS, HEREDITARY to search ALPORT'S SYNDROME 1966-76 (as Prov 1966-69) |
|
| prefLabel |
Nephritis, Hereditary |
|
| TERMUI |
T844774 T028031 T636432 T845659 T844771 T845660 T636430 T636431 T844775 T845658 T844773 T844772 T844776 T028032 T028033 T636429 |
|
| TH |
OMIM (2013) UNK (19XX) GHR (2014) NLM (2006) NLM (1964) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D003095 |