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 blood transition element cation concentration (HP:0011030)

Parent Node:
Abnormality of iron homeostasis (HP:0011031)

..Starting node
..Abnormal serum iron concentration (HP:0040130)

Term ID:

40130

Name:

Abnormal serum iron concentration

Synonym:

Definition:

Comments:

Reference:

HP:0040130

Genes and Diseases:

Child Nodes:

........

Increased serum iron (HP:0003452)

........

Decreased serum iron (HP:0040303)

Sister Nodes:

Abnormal circulating ferritin concentration (HP:0040133)

Abnormal hepatic iron concentration (HP:0040134)

Abnormal transferrin saturation (HP:0040135)

Increased total iron binding capacity (HP:0025196)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive			45
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0040130	HP:0040130	Abnormal serum iron concentration	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0040130	HP:0003452	Increased serum iron	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0040130	HP:0003452	Increased serum iron	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0040130	HP:0040303	Decreased serum iron	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive			45
HP:0040130	HP:0040303	Decreased serum iron	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0040130	HP:0040303	Decreased serum iron	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0040130	HP:0040303	Decreased serum iron	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0040130	HP:0040303	Decreased serum iron	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0040130	HP:0003452	Increased serum iron	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0040130	HP:0003452	Increased serum iron	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0040130	HP:0003452	Increased serum iron	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0040130	HP:0003452	Increased serum iron	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent		1
HP:0040130	HP:0040303	Decreased serum iron	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0040130	HP:0003452	Increased serum iron	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0040130	HP:0003452	Increased serum iron	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0040130	HP:0040303	Decreased serum iron	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	HP:0040283 - Occasional
HP:0040130	HP:0003452	Increased serum iron	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.	HP:0003577 - Congenital onset
HP:0040130	HP:0003452	Increased serum iron	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0040130	HP:0003452	Increased serum iron	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.		67
HP:0040130	HP:0040303	Decreased serum iron	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28

Genes (18) :BCS1L BMP2 CARD9 COL7A1 CP FOXP1 HAMP HFE HJV KIF23 PIGA PKLR RACGAP1 SKIC2 SKIC3 STEAP3 TFR2 TRNT1

Diseases (17) :OMIM:603358 OMIM:235200 OMIM:212050 ORPHA:89842 OMIM:604290 ORPHA:48818 ORPHA:391372 OMIM:613313 OMIM:602390 ORPHA:98870 ORPHA:447 ORPHA:766 OMIM:614602 OMIM:222470 ORPHA:300298 OMIM:604250 OMIM:616959

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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