Type I transferrin isoform profile
Symptom Information:
Symptom ID:
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HPO:0003642
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Synonyms:
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Abnormal isoelectric focusing of serum transferrin (type 1 pattern) [HPO:0003642] | Abnormal isoelectric focusing of serum transferrin, type I pattern [HPO:0003642] | Isoelectric focusing of serum transferrin consistent with CDG type I [HPO:0003642] | Abnormal isoelectric focusing of serum transferrin (type 1 pattern) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern)] | Abnormal isoelectric focusing of serum transferrin, type I pattern [OMIM:Abnormal isoelectric focusing of serum transferrin, type I pattern] | Isoelectric focusing of serum transferrin consistent with CDG type I [OMIM:Isoelectric focusing of serum transferrin consistent with CDG type I] | Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)] | Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)] | Abnormal isoelectric focusing of serum transferrin (type I pattern) [OMIM:Abnormal isoelectric focusing of serum transferrin (type I pattern)] | Abnormal isoelectric focusing of serum transferrin (type 1 pattern) Loss of complete N-glycans [OMIM,du] |
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Quality:
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Cross references:
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OMIM: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern)] | OMIM: "Abnormal isoelectric focusing of serum transferrin, type I pattern" [OMIM:Abnormal isoelectric focusing of serum transferrin, type I pattern] | OMIM: "Isoelectric focusing of serum transferrin consistent with CDG type I" [OMIM:Isoelectric focusing of serum transferrin consistent with CDG type I] | OMIM: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)] | OMIM: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)] | OMIM: "Abnormal isoelectric focusing of serum transferrin (type I pattern)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type I pattern)] |
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Is a (Direct Parents):
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Is a (Whole tree):
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HPO:
All(HPO:0000001)
Phenotypic abnormality(HPO:0000118)
Abnormality of metabolism/homeostasis(HPO:0001939)
Abnormality of carbohydrate metabolism/homeostasis(HPO:0011013)
Abnormal glycosylation(HPO:0012345)
Abnormal protein glycosylation(HPO:0012346)
Abnormal protein N-linked glycosylation(HPO:0012347)
Abnormal isoelectric focusing of serum transferrin(HPO:0003160)
Type I transferrin isoform profile(HPO:0003642)
MedDRA:
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Database Frequency:
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16 / 7739
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Resource:
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All diseases associated with this symptom: