Human Phenotype
Ontology
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Grandparent Node: Abnormal urine output (HP:0012590) | Parent Node: Decreased urine output (HP:0011037) | ..Starting node ..Anuria (HP:0100519)
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Term ID: |
100519 |
Name: |
Anuria |
Synonym: |
Absent urine output |
Definition: |
Absence of urine, clinically classified as below 50ml/day. |
Comments: |
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Reference: |
HP:0100519 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Oliguria (HP:0100520)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0100519 | HP:0100519 | Anuria | 0 | ACE CL E G H | 1636 | 2707 | OMIM:267430 | Renal tubular dysgenesis | . | | | 113 | | | HP:0100519 | HP:0100519 | Anuria | 0 | AGT CL E G H | 183 | 333 | OMIM:267430 | Renal tubular dysgenesis | . | | | 48 | | | HP:0100519 | HP:0100519 | Anuria | 0 | AGTR1 CL E G H | 185 | 336 | OMIM:267430 | Renal tubular dysgenesis | . | | | 33 | | | HP:0100519 | HP:0100519 | Anuria | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | | HP:0100519 | HP:0100519 | Anuria | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | | HP:0100519 | HP:0100519 | Anuria | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | | HP:0100519 | HP:0100519 | Anuria | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | | HP:0100519 | HP:0100519 | Anuria | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | | HP:0100519 | HP:0100519 | Anuria | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | | HP:0100519 | HP:0100519 | Anuria | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | | HP:0100519 | HP:0100519 | Anuria | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | | HP:0100519 | HP:0100519 | Anuria | 0 | REN CL E G H | 5972 | 9958 | OMIM:267430 | Renal tubular dysgenesis | . | | | 25 | | | HP:0100519 | HP:0100519 | Anuria | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
Genes (13) :ACE AGT AGTR1 C3 CD46 CFB CFH CFHR1 CFHR3 CFI MYH11 REN THBD
Diseases (8) :OMIM:267430 OMIM:612925 OMIM:612922 OMIM:612924 OMIM:235400 OMIM:612923 OMIM:619351 OMIM:612926 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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