loading...| Preferred Name |
Diabetes Insipidus, Nephrogenic |
|
| Synonyms |
Diabetes Insipidus, Nephrogenic, Autosomal |
|
| Definitions |
X-linked congenital nephrogenic diabetes insipidus disorders occurring mostly in males and associated with V2 RECEPTOR mutations. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D018500 |
|
| altLabel |
Diabetes Insipidus, Nephrogenic, Autosomal Congenital Nephrogenic Diabetes Insipidus Nephrogenic Diabetes Insipidus, Type II Diabetes Insipidus, Nephrogenic, Type I Vasopressin-Resistant Diabetes Insipidus Acquired Nephrogenic Diabetes Insipidus Diabetes Insipidus Renalis Nephrogenic Diabetes Insipidus Diabetes Insipidus, Nephrogenic, Type II Diabetes Insipidus, Nephrogenic, X-Linked ADH-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic, Type 1 Nephrogenic Diabetes Insipidus, Type I |
|
| AN |
do not confuse with DIABETIC NEPHROPATHIES which refers to diabetes mellitus or with DIABETES INSIPIDUS, NEUROGENIC |
|
| AQL |
BL CF CI CL CN 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 |
C0677501 C3542500 C1563705 C0268443 C1563706 C0162283 |
|
| DC |
1 |
|
| definition |
X-linked congenital nephrogenic diabetes insipidus disorders occurring mostly in males and associated with V2 RECEPTOR mutations. A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY. Congenital nephrogenic diabetes insipidus associated with mutations of AQUAPORIN-2. |
|
| DX |
19950101 |
|
| FX |
D051399 D017483 |
|
| HN |
95 |
|
| 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/Q000151 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 |
|
| Inverse of RO | ||
| Machine permutation |
95 |
|
| Mapped from | ||
| MDA |
19940416 |
|
| MMR |
20210630 |
|
| MN |
C12.950.419.135.500 C12.050.351.968.419.135.500 C12.200.777.419.135.500 |
|
| notation |
D018500 |
|
| prefLabel |
Diabetes Insipidus, Nephrogenic |
|
| TERMUI |
T605420 T844253 T605423 T605422 T842124 T812576 T605419 T781469 T605421 T842123 T605425 T605424 T055100 T781470 |
|
| TH |
OMIM (2013) NLM (1995) NLM (2012) GHR (2014) NLM (2006) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |