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 renal tubule morphology (HP:0000091)

Parent Node:
Abnormal tubulointerstitial morphology (HP:0001969)

..Starting node
..Tubulointerstitial nephritis (HP:0001970)

Term ID:

1970

Name:

Tubulointerstitial nephritis

Synonym:

Interstitial nephritis; Nephritis, Tubulointerstitial

Definition:

A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.

Comments:

Reference:

HP:0001970

Genes and Diseases:

Child Nodes:

........

Acute tubulointerstitial nephritis (HP:0004729)

........

Chronic tubulointerstitial nephritis (HP:0004743)

Sister Nodes:

Tubulointerstitial fibrosis (HP:0005576)

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:0001970	HP:0001970	Tubulointerstitial nephritis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	.	10
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.	6
HP:0001970	HP:0001970	Tubulointerstitial nephritis	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0001970	HP:0004729	Acute tubulointerstitial nephritis	1	CL E G H
HP:0001970	HP:0004743	Chronic tubulointerstitial nephritis	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0001970	HP:0004743	Chronic tubulointerstitial nephritis	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95

Genes (24) :ALMS1 BCS1L BTNL2 CEP83 CLCNKB COQ2 CPT2 DPH1 FAN1 FOXC2 FOXP3 HLA-DRB1 IFT122 INVS MMUT MRPL3 MUC1 PDSS2 PUS3 SLC12A3 SLC30A9 SLC7A7 TRAF3IP1 WDR19

Diseases (22) :OMIM:203800 OMIM:124000 ORPHA:797 OMIM:615862 ORPHA:358 ORPHA:255249 ORPHA:228302 ORPHA:228308 ORPHA:459061 OMIM:614817 ORPHA:33001 ORPHA:37042 OMIM:218330 OMIM:602088 OMIM:251000 OMIM:614582 OMIM:174000 ORPHA:488627 OMIM:617595 ORPHA:470 OMIM:616629 OMIM:614376

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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