MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Phenylketonurias (D010661)
..Starting node ..Hyperphenylalaninemia, BH4-Deficient, B (C562656)
Child Nodes:
Sister Nodes:
..6-pyruvoyl-tetrahydropterin synthase deficiency (C535325)
..Hyperphenylalaninemia with primapterinuria (C538382)
..Hyperphenylalaninemia, BH4-Deficient, B (C562656)
..HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
..HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
..Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency (C567493)
..HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT (OMIM:617384)
..Hyperphenylalaninemia, Non-Pku Mild (C567494)
..Phenylketonuria, Maternal (D017042)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5933
Name:	Hyperphenylalaninemia, BH4-Deficient, B
Definition:
Alternative IDs:	OMIM:233910
ParentIDs:	MESH:D010661
TreeNumbers:	C10.228.140.163.100.687/C562656 \|C16.320.565.100.766/C562656 \|C16.320.565.189.687/C562656 \|C18.452.132.100.687/C562656 \|C18.452.648.100.766/C562656 \|C18.452.648.189.687/C562656
Synonyms:	GTP Cyclohydrolase I Deficiency \|GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED \|HPABH4B \|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP Cyclohydrolase I Def
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Nervous system disease
Reference:	MedGen: