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 draws 10 Wikipedia views per month (head_and_neck_disease category, ranking #50 of 92).[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's subclass of is recorded as syndrome[7].
- Goldberg-Shprintzen syndrome's subclass of is recorded as genetic syndromic intellectual disability[8].
- Goldberg-Shprintzen syndrome's subclass of is recorded as ptosis[9].
- Goldberg-Shprintzen syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[10].
- Goldberg-Shprintzen syndrome's subclass of is recorded as rare disease involving intestinal motility[11].
- Goldberg-Shprintzen syndrome's subclass of is recorded as syndromic anorectal malformation[12].
- Goldberg-Shprintzen syndrome's subclass of is recorded as orofacial clefting syndrome[13].
- Goldberg-Shprintzen syndrome's subclass of is recorded as genetic disease[14].
- Goldberg-Shprintzen syndrome's subclass of is recorded as autosomal recessive disease[15].
- Goldberg-Shprintzen syndrome's MeSH descriptor ID is recorded as C537279[16].
- Goldberg-Shprintzen syndrome's OMIM ID is recorded as 609460[17].
- Goldberg-Shprintzen syndrome's KEGG ID is recorded as H00936[18].
- Goldberg-Shprintzen syndrome's KEGG ID is recorded as H00659[19].
- Goldberg-Shprintzen syndrome's Disease Ontology ID is recorded as DOID:0060481[20].
- Goldberg-Shprintzen syndrome's Orphanet ID is recorded as 66629[21].
- Goldberg-Shprintzen syndrome's NCI Thesaurus ID is recorded as C124840[22].
- Goldberg-Shprintzen syndrome's genetic association is recorded as KIFBP[23].
- Goldberg-Shprintzen syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060481[24].
- Goldberg-Shprintzen syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060481[25].
- Goldberg-Shprintzen syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_66629[26].
- Goldberg-Shprintzen syndrome's UMLS CUI is recorded as C1836123[27].
Why It Matters
Goldberg-Shprintzen syndrome draws 10 Wikipedia views per month (head_and_neck_disease category, ranking #50 of 92).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[28] It is known by 8 alternative names across languages and contexts.[29]