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MCID: PRD028
MIFTS: 15
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Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Prader-Willi Syndrome Due to Maternal Uniparental Disomy of...
MalaCards integrated aliases for Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15:
Name: Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15
59
Characteristics:Orphanet epidemiological data:59
prader-willi syndrome due to maternal uniparental disomy of chromosome 15
Age of onset: Adolescent,Adult; Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
External Ids:
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MalaCards based summary
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Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15, also known as upd(15)mat, is related to prader-willi syndrome and prader-willi syndrome due to imprinting mutation. An important gene associated with Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 is OCA2 (OCA2 Melanosomal Transmembrane Protein). Related phenotypes are behavior/neurological and adipose tissue
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MGI Mouse Phenotypes related to Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15:46
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Genes related to Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 (4 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15.
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