Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nephron morphology (HP:0012575)

Parent Node:
Abnormal renal tubule morphology (HP:0000091)

..Starting node
..Renal tubular epithelial necrosis (HP:0008682)

Term ID:

8682

Name:

Renal tubular epithelial necrosis

Synonym:

Acute tubular necrosis; Renal tubular necrosis

Definition:

Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).

Comments:

Reference:

HP:0008682

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal tubulointerstitial morphology (HP:0001969)

Proximal tubulopathy (HP:0000114)

Renal tubular atrophy (HP:0000092)

Renotubular dysgenesis (HP:0008660)

Tubular basement membrane disintegration (HP:0005583)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008682	HP:0008682	Renal tubular epithelial necrosis	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0008682	HP:0008682	Renal tubular epithelial necrosis	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0008682	HP:0008682	Renal tubular epithelial necrosis	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0008682	HP:0008682	Renal tubular epithelial necrosis	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0008682	HP:0008682	Renal tubular epithelial necrosis	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0008682	HP:0008682	Renal tubular epithelial necrosis	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56

Genes (5) :CPT2 LAMA3 LAMB3 LAMC2 SLC22A12

Diseases (4) :ORPHA:228302 ORPHA:228308 ORPHA:79404 OMIM:220150

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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