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 nephron morphology (HP:0012575)

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

..Starting node
..Abnormal tubulointerstitial morphology (HP:0001969)

Term ID:

1969

Name:

Abnormal tubulointerstitial morphology

Synonym:

Tubulointerstitial abnormality; Tubulointerstitial nephropathy

Definition:

An abnormality that involves the tubules and interstitial tissue of the kidney.

Comments:

Reference:

HP:0001969

Genes and Diseases:

Child Nodes:

........

Tubulointerstitial nephritis (HP:0001970)

................... HP:0004729 Acute tubulointerstitial nephritis
................... HP:0004743 Chronic tubulointerstitial nephritis

........

Tubulointerstitial fibrosis (HP:0005576)

Sister Nodes:

Proximal tubulopathy (HP:0000114)

Renal tubular atrophy (HP:0000092)

Renal tubular epithelial necrosis (HP:0008682)

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:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18		10
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic		15
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV		86
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6		2
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2		25
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9		6
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001969	HP:0001969	Abnormal tubulointerstitial morphology	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0001969	HP:0032636	Tubulointerstitial viral infiltration	1	CL E G H
HP:0001969	HP:0032635	Tubulointerstitial microganismal infiltration	1	CL E G H
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	.	10
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0001969	HP:0005576	Tubulointerstitial fibrosis	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.	6
HP:0001969	HP:0001970	Tubulointerstitial nephritis	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0001969	HP:0020204	Tubulointerstitial bacterial infiltration	2	CL E G H
HP:0001969	HP:0004729	Acute tubulointerstitial nephritis	2	CL E G H
HP:0001969	HP:0032610	Tubulointerstitial mycobacterial infiltration	2	CL E G H
HP:0001969	HP:0020205	Tubulointerstitial fungal infiltration	2	CL E G H
HP:0001969	HP:0004743	Chronic tubulointerstitial nephritis	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0001969	HP:0004743	Chronic tubulointerstitial nephritis	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95

Genes (58) :ACP5 ALMS1 ANTXR1 BAZ1B BCL7B BCS1L BSND BTNL2 BUD23 CEP83 CLCN5 CLCNKB CLIP2 COQ2 CPT2 CTNS DNAJC30 DPH1 EIF4H ELN FAN1 FKBP6 FOXC2 FOXP3 GBE1 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 IFT122 INVS LIMK1 METTL27 MLXIPL MMUT MRPL3 MUC1 NCF1 NDUFAF6 NPHP1 NPHP3 NPHP4 PDSS2 PKHD1 PTPRO PUS3 REN RFC2 SLC12A3 SLC30A9 SLC37A4 SLC7A7 STX1A TBL2 TMEM270 TRAF3IP1 VPS37D WDR19

Diseases (38) :OMIM:607944 OMIM:203800 OMIM:230740 ORPHA:904 OMIM:124000 OMIM:602522 ORPHA:797 OMIM:615862 OMIM:310468 ORPHA:358 ORPHA:255249 ORPHA:228302 ORPHA:228308 ORPHA:411629 ORPHA:459061 OMIM:614817 ORPHA:33001 ORPHA:37042 OMIM:232500 OMIM:218330 OMIM:602088 OMIM:251000 OMIM:614582 OMIM:174000 OMIM:618913 OMIM:256100 OMIM:266900 OMIM:604387 OMIM:606966 OMIM:263200 OMIM:614196 ORPHA:488627 OMIM:613092 OMIM:617595 ORPHA:79259 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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