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

..Starting node
..Abnormal total iron binding capacity (HP:0033212)

Term ID:

33212

Name:

Abnormal total iron binding capacity

Synonym:

Definition:

Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.

Comments:

Reference:

HP:0033212

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033212	HP:0033212	Abnormal total iron binding capacity	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0033212	HP:0033212	Abnormal total iron binding capacity	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0033212	HP:0033212	Abnormal total iron binding capacity	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0033212	HP:0033212	Abnormal total iron binding capacity	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0033212	HP:0033212	Abnormal total iron binding capacity	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0033212	HP:0033211	Decreased total iron binding capacity	1	CL E G H
HP:0033212	HP:0025196	Increased total iron binding capacity	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0033212	HP:0025196	Increased total iron binding capacity	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0033212	HP:0025196	Increased total iron binding capacity	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0033212	HP:0025196	Increased total iron binding capacity	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0033212	HP:0025196	Increased total iron binding capacity	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42

Genes (4) :ABCD3 KIF23 RACGAP1 SLC30A10

Diseases (4) :OMIM:616278 ORPHA:98870 ORPHA:309854 OMIM:613280

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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