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:
Abnormality of iron homeostasis (HP:0011031)

Parent Node:
Abnormal serum iron concentration (HP:0040130)

..Starting node
..Increased serum iron (HP:0003452)

Term ID:

3452

Name:

Increased serum iron

Synonym:

Definition:

Comments:

Reference:

HP:0003452

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum iron (HP:0040303)

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:0003452	HP:0003452	Increased serum iron	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0003452	HP:0003452	Increased serum iron	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0003452	HP:0003452	Increased serum iron	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0003452	HP:0003452	Increased serum iron	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0003452	HP:0003452	Increased serum iron	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0003452	HP:0003452	Increased serum iron	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent		1
HP:0003452	HP:0003452	Increased serum iron	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0003452	HP:0003452	Increased serum iron	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0003452	HP:0003452	Increased serum iron	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.	HP:0003577 - Congenital onset
HP:0003452	HP:0003452	Increased serum iron	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0003452	HP:0003452	Increased serum iron	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.		67

Genes (11) :BCS1L BMP2 HAMP HFE HJV KIF23 PKLR RACGAP1 SKIC3 STEAP3 TFR2

Diseases (9) :OMIM:603358 OMIM:235200 OMIM:613313 OMIM:602390 ORPHA:98870 ORPHA:766 OMIM:222470 ORPHA:300298 OMIM:604250

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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