Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Child Development Disorders, Pervasive (D002659)
Parent Node: Hyperuricemia (D033461)
Parent Node: Intellectual Disability (D008607)
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5524

Name:

Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase

Definition:

Alternative IDs:

ParentIDs:

MESH:D002659|MESH:D008607|MESH:D011686|MESH:D033461

TreeNumbers:

C10.597.606.643/C565489 |C16.320.565.798/C565489 |C18.452.648.798/C565489 |C23.550.449/C565489 |C23.888.592.604.646/C565489 |F03.550.325/C565489 |F03.550.600/C565489

Synonyms:

Slim Mappings:

Reference:

MedGen: C565489
MeSH: C565489
OMIM: 240000;

Genes:

Phenotypes

1	HP:0000164	Abnormality of the dentition
2	HP:0001344	Absent speech
3	HP:0000522	Alacrima
4	HP:0000717	Autism
5	HP:0002149	Hyperuricemia
6	HP:0001249	Intellectual disability

Disease Causing ClinVar Variants