Pallister-Hall syndrome
Human disease
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Summary
Pallister-Hall syndrome is a rare disease[1]. It is a type of syndromic renal or urinary tract malformation[2], disease associated with non-acquired combined pituitary hormone deficiency[3], syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy[4], and syndromic anorectal malformation[5].
Key Facts
- Instance of: class of disease[6]
- Subclass of: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[7], autosomal dominant disease[8], syndrome[9], developmental defect during embryogenesis[10]
- Prevalence: 0.000001[11]
- ICD-9-CM: 759.89[12]
- NCI Thesaurus ID: C84987[13]
- Health specialty: medical genetics[14]
- Genetic association: GLI3[15], SMO[16]
- Age of onset: congenital onset[17], infantile onset[18], neonatal onset[19]
- On focus list of Wikimedia project: WikiProject Medicine[20]
- Has phenotype: congenital onset[21]
- P14914: D00672[22]