Schuurs-Hoeijmakers Syndrome
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2
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Schuurs-Hoeijmakers Syndrome
Summary
Schuurs-Hoeijmakers Syndrome is a developmental defect during embryogenesis[1].
Key Facts
- Schuurs-Hoeijmakers Syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- Schuurs-Hoeijmakers Syndrome's instance of is recorded as rare disease[3].
- Schuurs-Hoeijmakers Syndrome's instance of is recorded as class of disease[4].
- Schuurs-Hoeijmakers Syndrome is a type of autosomal dominant non-syndromic intellectual disability[5].
- Schuurs-Hoeijmakers Syndrome is a type of genetic syndromic intellectual disability[6].
- Schuurs-Hoeijmakers Syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[7].
- Schuurs-Hoeijmakers Syndrome's NCI Thesaurus ID is recorded as C150555[8].
- Schuurs-Hoeijmakers Syndrome's genetic association is recorded as PACS1[9].
- Schuurs-Hoeijmakers Syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070047[10].
- Schuurs-Hoeijmakers Syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0070047[11].
- Schuurs-Hoeijmakers Syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_329224[12].
- Schuurs-Hoeijmakers Syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].