Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 physiology (HP:0012211)

Parent Node:
Acidosis (HP:0001941)

Parent Node:
Renal tubular dysfunction (HP:0000124)

..Starting node
..Renal tubular acidosis (HP:0001947)

Term ID:

1947

Name:

Renal tubular acidosis

Synonym:

Accumulation of acid in body due to kidney problem

Definition:

Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.

Comments:

Reference:

HP:0001947

Genes and Diseases:

Child Nodes:

........

Proximal renal tubular acidosis (HP:0002049)

........

Bicarbonate-wasting renal tubular acidosis (HP:0004910)

........

Distal renal tubular acidosis (HP:0008341)

................... HP:0004916 Generalized distal tubular acidosis

Sister Nodes:

Impaired histidine renal tubular absorption (HP:0008666)

Renal tubular lysine transport defect (HP:0008272)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001947	HP:0001947	Renal tubular acidosis	0	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1	525	853	192132
HP:0001947	HP:0001947	Renal tubular acidosis	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001947	HP:0001947	Renal tubular acidosis	0	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0001947	HP:0001947	Renal tubular acidosis	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001947	HP:0001947	Renal tubular acidosis	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1640	29331	615068
HP:0001947	HP:0001947	Renal tubular acidosis	0	KYNU CL E G H	8942	79155				ORPHA	1	81	6469	605197
HP:0001947	HP:0001947	Renal tubular acidosis	0	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001947	HP:0001947	Renal tubular acidosis	0	NOTCH2 CL E G H	4853	610205	Alagille syndrome 2	610205	C1857761	OMIM	1	1122	7882	600275
HP:0001947	HP:0001947	Renal tubular acidosis	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC4A1 CL E G H	6521	179800	Renal tubular acidosis, distal, autosomal dominant	179800	C0259810	OMIM	1	549	11027	109270
HP:0001947	HP:0001947	Renal tubular acidosis	0	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001947	HP:0001947	Renal tubular acidosis	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1	525	853	192132
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1	525	853	192132
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1	525	853	192132
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1	525	853	192132
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1640	29331	615068
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1640	29331	615068
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1640	29331	615068
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1640	29331	615068
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	KYNU CL E G H	8942	79155				ORPHA	1	81	6469	605197
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	KYNU CL E G H	8942	79155				ORPHA	1	81	6469	605197
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	KYNU CL E G H	8942	79155				ORPHA	1	81	6469	605197
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	KYNU CL E G H	8942	79155				ORPHA	1	81	6469	605197
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	NOTCH2 CL E G H	4853	610205	Alagille syndrome 2	610205	C1857761	OMIM	1	1122	7882	600275
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	NOTCH2 CL E G H	4853	610205	Alagille syndrome 2	610205	C1857761	OMIM	1	1122	7882	600275
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	NOTCH2 CL E G H	4853	610205	Alagille syndrome 2	610205	C1857761	OMIM	1	1122	7882	600275
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	NOTCH2 CL E G H	4853	610205	Alagille syndrome 2	610205	C1857761	OMIM	1	1122	7882	600275
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	SLC4A1 CL E G H	6521	179800	Renal tubular acidosis, distal, autosomal dominant	179800	C0259810	OMIM	1	549	11027	109270
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	SLC4A1 CL E G H	6521	179800	Renal tubular acidosis, distal, autosomal dominant	179800	C0259810	OMIM	1	549	11027	109270
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	SLC4A1 CL E G H	6521	179800	Renal tubular acidosis, distal, autosomal dominant	179800	C0259810	OMIM	1	549	11027	109270
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	SLC4A1 CL E G H	6521	179800	Renal tubular acidosis, distal, autosomal dominant	179800	C0259810	OMIM	1	549	11027	109270
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1	525	853	192132
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1640	29331	615068
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	KYNU CL E G H	8942	79155				ORPHA	1	81	6469	605197
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	NOTCH2 CL E G H	4853	610205	Alagille syndrome 2	610205	C1857761	OMIM	1	1122	7882	600275
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	SLC4A1 CL E G H	6521	179800	Renal tubular acidosis, distal, autosomal dominant	179800	C0259810	OMIM	1	549	11027	109270
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001947	HP:0001947	Renal tubular acidosis	0	CPT1A CL E G H	1374	156				ORPHA	0	837	2328	600528
HP:0001947	HP:0001947	Renal tubular acidosis	0	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	566	13601	605654
HP:0001947	HP:0001947	Renal tubular acidosis	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1605	6188	601920
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CPT1A CL E G H	1374	156				ORPHA	0	837	2328	600528
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	CPT1A CL E G H	1374	156				ORPHA	0	837	2328	600528
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CPT1A CL E G H	1374	156				ORPHA	0	837	2328	600528
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	CPT1A CL E G H	1374	156				ORPHA	0	837	2328	600528
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	566	13601	605654
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	566	13601	605654
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	566	13601	605654
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	566	13601	605654
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1605	6188	601920
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1605	6188	601920
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1605	6188	601920
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1605	6188	601920
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	CPT1A CL E G H	1374	156				ORPHA	0	837	2328	600528
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	566	13601	605654
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	0	1605	6188	601920

Genes (41) :ALDOB ATP6V0A4 ATP6V1B1 BCS1L CA2 CAD CLDN16 COA7 COA8 COX10 COX14 COX20 COX6B1 COX8A CPT1A CTNS EPG5 FAH FASTKD2 FBXL4 FN1 GATA3 HNF1B HNF4A JAG1 KYNU NADK2 NOTCH2 OCRL PC PET100 RMND1 SCO1 SLC4A1 SLC4A4 TACO1 TRNN TRNS1 UQCC2 VIPAS39 VPS33B

Diseases (34) :267300 616457 248250 156 255120 1493 615471 118450 79155 431361 610205 614922 179800 613404 208085 229600 602722 53693 259730 220110 436271 411629 219800 276700 146255 93111 263455 534 309000 266150 611590 604278 615824 601894

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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