MEDNIK syndrome
syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22
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MEDNIK syndrome
Summary
MEDNIK syndrome is a head and neck disease[1]. It is known by 11 alternative names across languages and contexts.[2]
Key Facts
- MEDNIK syndrome's instance of is recorded as head and neck disease[3].
- MEDNIK syndrome's instance of is recorded as developmental defect during embryogenesis[4].
- MEDNIK syndrome's instance of is recorded as rare disease[5].
- MEDNIK syndrome's instance of is recorded as class of disease[6].
- MEDNIK syndrome is a type of syndrome[7].
- MEDNIK syndrome is a type of genetic syndromic intellectual disability[8].
- MEDNIK syndrome is a type of developmental anomaly of metabolic origin[9].
- MEDNIK syndrome is a type of syndromic genetic deafness[10].
- MEDNIK syndrome is a type of autosomal ichthyosis syndrome with prominent neurological signs[11].
- MEDNIK syndrome is a type of copper metabolism disease[12].
- MEDNIK syndrome is a type of Erythrokeratodermia[13].
- MEDNIK syndrome's genetic association is recorded as AP1S1[14].
- MEDNIK syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060483[15].
- MEDNIK syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060483[16].
- MEDNIK syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_171851[17].
- MEDNIK syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
Why It Matters
MEDNIK syndrome is known by 11 alternative names across languages and contexts.[2]