Biomaterial Database

Pallister-Hall syndrome. 1998

A H Olney, and P Kolodziej

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, USA.

UI	MeSH Term	Description	Entries
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002897	Chromosomes, Human, Pair 7	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 7
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D016368	Frameshift Mutation	A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.	Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations
D017689	Polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	Hyperdactyly,Polydactylia,Polydactylism,Hyperdactylies,Polydactylias,Polydactylies,Polydactylisms
D019465	Craniofacial Abnormalities	Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.	Abnormalities, Craniofacial,Abnormality, Craniofacial,Craniofacial Abnormality