Goldberg-Shprintzen syndrome
syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1
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Goldberg-Shprintzen syndrome
Summary
Goldberg-Shprintzen syndrome is a head and neck disease[1]. It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- Goldberg-Shprintzen syndrome's instance of is recorded as head and neck disease[3].
- Goldberg-Shprintzen syndrome's instance of is recorded as developmental defect during embryogenesis[4].
- Goldberg-Shprintzen syndrome's instance of is recorded as rare disease[5].
- Goldberg-Shprintzen syndrome's instance of is recorded as class of disease[6].
- Goldberg-Shprintzen syndrome is a type of syndrome[7].
- Goldberg-Shprintzen syndrome is a type of genetic syndromic intellectual disability[8].
- Goldberg-Shprintzen syndrome is a type of ptosis[9].
- Goldberg-Shprintzen syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[10].
- Goldberg-Shprintzen syndrome is a type of rare disease involving intestinal motility[11].
- Goldberg-Shprintzen syndrome is a type of syndromic anorectal malformation[12].
- Goldberg-Shprintzen syndrome is a type of orofacial clefting syndrome[13].
- Goldberg-Shprintzen syndrome is a type of genetic disease[14].
- Goldberg-Shprintzen syndrome is a type of autosomal recessive disease[15].
- Goldberg-Shprintzen syndrome's NCI Thesaurus ID is recorded as C124840[16].
- Goldberg-Shprintzen syndrome's genetic association is recorded as KIFBP[17].
- Goldberg-Shprintzen syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060481[18].
- Goldberg-Shprintzen syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060481[19].
- Goldberg-Shprintzen syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_66629[20].
- Goldberg-Shprintzen syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
Why It Matters
Goldberg-Shprintzen syndrome has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[2] It is known by 8 alternative names across languages and contexts.[22]