MeSH Browser

MeSH Supplementary: Johanson Blizzard syndrome
Unique ID: C535880
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535880
Entry Term(s): Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency; Johanson-Blizzard Syndrome; Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia; Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness; Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness
Heading Mapped to: *Anus, Imperforate; *Ectodermal Dysplasia; *Growth Disorders; *Hearing Loss, Sensorineural; *Hypothyroidism; *Intellectual Disability; Nose / abnormalities; *Pancreatic Diseases
Frequency: 32
Note: A hereditary autosomal recessive disorder characterized by poor growth, intellectual disability, and variable dysmorphic features, including nasal alae abnormalities, abnormal hair patterns or scalp defects, ANODNOTIA. Affected individuals may also have hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency. Mutations in the UBR1 gene have been identified. OMIM: 243800
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Johanson Blizzard syndrome MeSH Supplementary Concept Data 2024