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:
Abnormality of humoral immunity (HP:0005368)

..Starting node
..Abnormality of complement system (HP:0005339)

Term ID:

5339

Name:

Abnormality of complement system

Synonym:

Definition:

An abnormality of the complement system.

Comments:

Reference:

HP:0005339

Genes and Diseases:

Child Nodes:

........

Complement deficiency (HP:0004431)

................... HP:0004434 C8 deficiency
................... HP:0005356 Decreased serum complement factor I
................... HP:0005369 Decreased serum complement factor H
................... HP:0005416 Decreased serum complement factor B
................... HP:0005421 Decreased serum complement C3
................... HP:0008338 Partial functional complement factor D deficiency
................... HP:0012308 Decreased serum complement C9
................... HP:0045042 Decreased serum complement C4

........

Abnormality of the alternative complement pathway (HP:0005482)

................... HP:0005389 Depletion of components of the alternative complement pathway
................... HP:0005423 Dysfunctional alternative complement pathway

........

Reduced hemolytic complement activity (HP:0025434)

........

Decreased activity of complement receptor (HP:0025541)

........

Abnormal total hemolytic complement activity (HP:0031904)

................... HP:0031905 Increased total hemolytic complement activity
................... HP:0031906 Decreased total hemolytic complement activity

Sister Nodes:

Abnormal immunoglobulin level (HP:0010701)

Circulating immune complexes (HP:0012224)

Cryoglobulinemia (HP:0100778)

Decreased circulating level of specific antibody (HP:0012475)

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:0005339	HP:0005339	Abnormality of complement system	0	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency		1
HP:0005339	HP:0005339	Abnormality of complement system	0	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency		2
HP:0005339	HP:0005339	Abnormality of complement system	0	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency		3
HP:0005339	HP:0005339	Abnormality of complement system	0	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency	.	7
HP:0005339	HP:0005339	Abnormality of complement system	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0005339	HP:0005339	Abnormality of complement system	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0005339	HP:0005339	Abnormality of complement system	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency		1
HP:0005339	HP:0005339	Abnormality of complement system	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0005339	HP:0005339	Abnormality of complement system	0	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0005339	HP:0005339	Abnormality of complement system	0	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0005339	HP:0005339	Abnormality of complement system	0	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0005339	HP:0005339	Abnormality of complement system	0	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I		9
HP:0005339	HP:0005339	Abnormality of complement system	0	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II		7
HP:0005339	HP:0005339	Abnormality of complement system	0	C9 CL E G H	735	1358	OMIM:613825	Complement component 9 deficiency		10
HP:0005339	HP:0005339	Abnormality of complement system	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0005339	HP:0005339	Abnormality of complement system	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0005339	HP:0005339	Abnormality of complement system	0	CFD CL E G H	1675	2771	OMIM:613912	Complement factor D deficiency		4
HP:0005339	HP:0005339	Abnormality of complement system	0	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency		86
HP:0005339	HP:0005339	Abnormality of complement system	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0005339	HP:0005339	Abnormality of complement system	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0005339	HP:0005339	Abnormality of complement system	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0005339	HP:0005339	Abnormality of complement system	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0005339	HP:0005339	Abnormality of complement system	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0005339	HP:0005339	Abnormality of complement system	0	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked		7
HP:0005339	HP:0005339	Abnormality of complement system	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis		3
HP:0005339	HP:0005339	Abnormality of complement system	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0005339	HP:0005339	Abnormality of complement system	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency		23
HP:0005339	HP:0005339	Abnormality of complement system	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0005339	HP:0005339	Abnormality of complement system	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0005339	HP:0005339	Abnormality of complement system	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0005339	HP:0005339	Abnormality of complement system	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0005339	HP:0005339	Abnormality of complement system	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0005339	HP:0005339	Abnormality of complement system	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0005339	HP:0005339	Abnormality of complement system	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0005339	HP:0005339	Abnormality of complement system	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0005339	HP:0005339	Abnormality of complement system	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0005339	HP:0005339	Abnormality of complement system	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0005339	HP:0005339	Abnormality of complement system	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0005339	HP:0005339	Abnormality of complement system	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0005339	HP:0031904	Abnormal total hemolytic complement activity	1	CL E G H
HP:0005339	HP:0004431	Complement deficiency	1	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency		1
HP:0005339	HP:0004431	Complement deficiency	1	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency		2
HP:0005339	HP:0004431	Complement deficiency	1	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency		3
HP:0005339	HP:0004431	Complement deficiency	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0005339	HP:0004431	Complement deficiency	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0005339	HP:0025434	Reduced hemolytic complement activity	1	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0005339	HP:0004431	Complement deficiency	1	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency		1
HP:0005339	HP:0004431	Complement deficiency	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0005339	HP:0025434	Reduced hemolytic complement activity	1	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0005339	HP:0004431	Complement deficiency	1	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0005339	HP:0004431	Complement deficiency	1	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0005339	HP:0025434	Reduced hemolytic complement activity	1	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0005339	HP:0004431	Complement deficiency	1	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0005339	HP:0004431	Complement deficiency	1	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I		9
HP:0005339	HP:0004431	Complement deficiency	1	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II		7
HP:0005339	HP:0004431	Complement deficiency	1	C9 CL E G H	735	1358	OMIM:613825	Complement component 9 deficiency		10
HP:0005339	HP:0004431	Complement deficiency	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0005339	HP:0004431	Complement deficiency	1	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0005339	HP:0004431	Complement deficiency	1	CFD CL E G H	1675	2771	OMIM:613912	Complement factor D deficiency	.	4
HP:0005339	HP:0004431	Complement deficiency	1	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency		86
HP:0005339	HP:0005482	Abnormality of the alternative complement pathway	1	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency		86
HP:0005339	HP:0004431	Complement deficiency	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0005339	HP:0004431	Complement deficiency	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0005339	HP:0004431	Complement deficiency	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0005339	HP:0004431	Complement deficiency	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0005339	HP:0004431	Complement deficiency	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0005339	HP:0005482	Abnormality of the alternative complement pathway	1	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked		7
HP:0005339	HP:0004431	Complement deficiency	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040281 - Very frequent	3
HP:0005339	HP:0004431	Complement deficiency	1	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0005339	HP:0004431	Complement deficiency	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare	23
HP:0005339	HP:0004431	Complement deficiency	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0005339	HP:0004431	Complement deficiency	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0005339	HP:0004431	Complement deficiency	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0005339	HP:0004431	Complement deficiency	1	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0005339	HP:0004431	Complement deficiency	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0005339	HP:0004431	Complement deficiency	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0005339	HP:0025434	Reduced hemolytic complement activity	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0005339	HP:0034204	Decreased circulating C1-esterase inhibitor concentration	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0005339	HP:0004431	Complement deficiency	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0005339	HP:0004431	Complement deficiency	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040284 - Very rare	104
HP:0005339	HP:0004431	Complement deficiency	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0005339	HP:0004431	Complement deficiency	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0005339	HP:0004431	Complement deficiency	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0005339	HP:0031906	Decreased total hemolytic complement activity	2	CL E G H
HP:0005339	HP:0031905	Increased total hemolytic complement activity	2	CL E G H
HP:0005339	HP:0008338	Partial functional complement factor D deficiency	2	CL E G H
HP:0005339	HP:0005356	Decreased serum complement factor I	2	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency	.	1
HP:0005339	HP:0005356	Decreased serum complement factor I	2	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency	.	2
HP:0005339	HP:0005356	Decreased serum complement factor I	2	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency	.	3
HP:0005339	HP:0005421	Decreased serum complement C3	2	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive	.	92
HP:0005339	HP:0005421	Decreased serum complement C3	2	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0005339	HP:0045042	Decreased serum complement C4	2	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0005339	HP:0045042	Decreased serum complement C4	2	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0005339	HP:0033057	Decreased serum terminal complement component	2	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0005339	HP:0033057	Decreased serum terminal complement component	2	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0005339	HP:0033057	Decreased serum terminal complement component	2	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0005339	HP:0033057	Decreased serum terminal complement component	2	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I		9
HP:0005339	HP:0033057	Decreased serum terminal complement component	2	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II		7
HP:0005339	HP:0033057	Decreased serum terminal complement component	2	C9 CL E G H	735	1358	OMIM:613825	Complement component 9 deficiency		10
HP:0005339	HP:0005421	Decreased serum complement C3	2	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0005339	HP:0005416	Decreased serum complement factor B	2	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0005339	HP:0005389	Depletion of components of the alternative complement pathway	2	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0005339	HP:0005369	Decreased serum complement factor H	2	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0005339	HP:0005369	Decreased serum complement factor H	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0005339	HP:0005416	Decreased serum complement factor B	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0005339	HP:0005356	Decreased serum complement factor I	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0005339	HP:0005421	Decreased serum complement C3	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0005339	HP:0005421	Decreased serum complement C3	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005356	Decreased serum complement factor I	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005369	Decreased serum complement factor H	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005416	Decreased serum complement factor B	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005369	Decreased serum complement factor H	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005416	Decreased serum complement factor B	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005356	Decreased serum complement factor I	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005421	Decreased serum complement C3	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005339	HP:0005421	Decreased serum complement C3	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005339	HP:0005356	Decreased serum complement factor I	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005339	HP:0005369	Decreased serum complement factor H	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005339	HP:0005416	Decreased serum complement factor B	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005339	HP:0005421	Decreased serum complement C3	2	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0005339	HP:0005423	Dysfunctional alternative complement pathway	2	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked	.	7
HP:0005339	HP:0045042	Decreased serum complement C4	2	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0005339	HP:0005421	Decreased serum complement C3	2	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0005339	HP:0005421	Decreased serum complement C3	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0005339	HP:0045042	Decreased serum complement C4	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0005339	HP:0005421	Decreased serum complement C3	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0005339	HP:0005421	Decreased serum complement C3	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0005339	HP:0005421	Decreased serum complement C3	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0005339	HP:0045042	Decreased serum complement C4	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0005339	HP:0005421	Decreased serum complement C3	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0005339	HP:0045042	Decreased serum complement C4	2	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0005339	HP:0005421	Decreased serum complement C3	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0005339	HP:0045042	Decreased serum complement C4	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0005339	HP:0005421	Decreased serum complement C3	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent	2
HP:0005339	HP:0045042	Decreased serum complement C4	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent	2
HP:0005339	HP:0005421	Decreased serum complement C3	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0005339	HP:0045042	Decreased serum complement C4	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0005339	HP:0008290	Partial complement factor H deficiency	3	CL E G H
HP:0005339	HP:0045043	Decreased serum complement C4a	3	CL E G H
HP:0005339	HP:0045044	Decreased serum complement C4b	3	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency	.	1
HP:0005339	HP:0033060	Decreased serum complement C5	3	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0005339	HP:0033059	Decreased serum complement C6	3	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0005339	HP:0033058	Decreased serum complement C7	3	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0005339	HP:0004434	Decreased serum complement C8	3	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I	.	9
HP:0005339	HP:0004434	Decreased serum complement C8	3	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II	.	7
HP:0005339	HP:0012308	Decreased serum complement C9	3	C9 CL E G H	735	1358	OMIM:613825	Complement component 9 deficiency	.	10

Genes (34) :C1QA C1QB C1QC C1S C3 C4A C4B C5 C6 C7 C8A C8B C9 CD46 CFB CFD CFH CFHR1 CFHR3 CFI CFP DNASE1L3 GALK1 IRAK1 LMNA LMNB2 MASP2 PACS1 PRKCD SERPING1 SLC7A7 SPP1 STAT4 TLR7

Diseases (33) :OMIM:613652 OMIM:613783 OMIM:613779 OMIM:612925 OMIM:614380 OMIM:614379 OMIM:609536 OMIM:612446 OMIM:610102 OMIM:613790 OMIM:613789 OMIM:613825 OMIM:612922 OMIM:615561 OMIM:613912 OMIM:609814 OMIM:235400 OMIM:610984 OMIM:612923 OMIM:312060 ORPHA:36412 OMIM:614420 ORPHA:79237 ORPHA:93552 ORPHA:2348 ORPHA:79087 OMIM:608709 OMIM:613791 ORPHA:329224 OMIM:615559 OMIM:106100 ORPHA:470 OMIM:301080

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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