hypoparathyroidism-retardation-dysmorphism syndrome
Human disease
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Summary
hypoparathyroidism-retardation-dysmorphism syndrome is a developmental defect during embryogenesis[1]. It draws 242 Wikipedia views per month (developmental defect during embryogenesis category, ranking #129 of 308).[2]
Key Facts
- Instance of: rare disease[3], class of disease[4]
- Subclass of: autosomal recessive disease[5], multiple congenital anomalies/dysmorphic syndrome-intellectual disability[6], genetic syndromic intellectual disability[7], syndrome with hypoparathyroidism[8], syndrome[9]
- NCI Thesaurus ID: C133727[10]
- Genetic association: TBCE[11]
- Exact match: http://purl.obolibrary.org/obo/DOID_0060348[12], http://identifiers.org/doid/DOID:0060348[13], http://www.orpha.net/ORDO/Orphanet_2323[14]
- On focus list of Wikimedia project: WikiProject Medicine[15]
Why It Matters
hypoparathyroidism-retardation-dysmorphism syndrome is known by 16 alternative names across languages and contexts.[16]