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:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Autoimmunity (HP:0002960)

..Starting node
..Systemic lupus erythematosus (HP:0002725)

Term ID:

2725

Name:

Systemic lupus erythematosus

Synonym:

SLE

Definition:

A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.

Comments:

Reference:

HP:0002725

Genes and Diseases:

Child Nodes:

Sister Nodes:

Autoimmune antibody positivity (HP:0030057)

Autoimmune hemolytic anemia (HP:0001890)

Autoimmune thrombocytopenia (HP:0001973)

Hashimoto thyroiditis (HP:0000872)

Neutropenia in presence of anti-neutropil antibodies (HP:0001904)

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:0002725	HP:0002725	Systemic lupus erythematosus	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	1
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	2
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	3
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency	.	7
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency	.	23
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive	.	92
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I	.	9
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040283 - Occasional	1371
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	.	23
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16	.	3
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040284 - Very rare	52
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	SERPING1 CL E G H	710	1228	OMIM:120790	Complement component 4, partial deficiency of	.	64
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0002725	HP:0002725	Systemic lupus erythematosus	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56

Genes (37) :ACP5 C1QA C1QB C1QC C1S C2 C3 C4A C8A CASP10 CFTR CTLA4 DDX41 DNASE1 DNASE1L3 FAS FASLG FCGR2A FCGR2B IGHG2 IGKC IRAK1 MASP2 PEPD PNP PRKCD PTPN22 RASGRP1 SEMA6B SERPING1 SMPD1 SOCS1 SPP1 STAT4 TLR7 TPP2 TREX1

Diseases (24) :ORPHA:1855 OMIM:607944 OMIM:613652 OMIM:613783 OMIM:217000 OMIM:613779 OMIM:614380 OMIM:613790 ORPHA:3261 ORPHA:498359 OMIM:152700 OMIM:616871 OMIM:614420 ORPHA:183675 ORPHA:93552 OMIM:613791 OMIM:170100 ORPHA:760 OMIM:618876 OMIM:120790 ORPHA:77293 OMIM:619375 OMIM:301080 ORPHA:444463

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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