Closed csbjohnson closed 11 months ago
Add following new NHGRI terms to the DO as well as specific notes associated with each new term.
Human malformation syndromes
Hidrotic Ectodermal dysplasia: Single Gene Disorder/ human malformation syndrome/ hypohidrotic ectodermal dysplasia (DOID:14793) but there isn't a Hidrotic Ectodermal dysplasia/ https://research.nhgri.nih.gov/atlas/condition/
Mucopolysaccharidoses: Single Gene Disorders/ human malformation syndrome/ https://research.nhgri.nih.gov/atlas/condition/
Multiple Lentigenes syndrome: Single Gene Disorders// human malformation syndrome/ https://research.nhgri.nih.gov/atlas/condition/
Multiple Lentigenes syndrome: Single Gene Disorders/ human malformation syndrome/ https://research.nhgri.nih.gov/atlas/condition/
Trichorhinophalangeal syndrome: Single Gene Disorders/ / human malformation syndrome/ The subtypes are in the DO. Add the disease parent term
Clinical Genomic database
Hemophilia: Genetic disorder/ some subtypes seem to be in the DO but not the parent term, add parent term https://www.genome.gov/Genetic-Disorders/Hemophilia
Inborn Errors of Metabolism: Genetic disorder/ Also add as a "disease of metabolism" parent term https://www.genome.gov/Genetic-Disorders/Inborn-Errors-of-Metabolism
Myotonic dystrophy: Genetic disorder/ subtypes seem to be in the DO but not the parent term, add parent term/ https://www.genome.gov/Genetic-Disorders/Myotonic-Dystrophy
Poland anomaly: Genetic disorder/ https://www.genome.gov/Genetic-Disorders/Poland-Anomaly
Porphyrias: Genetic disorder/ https://www.genome.gov/Genetic-Disorders/Porphyria
Red Cell Membrane Disorder Mutations Database
Addressed in Ticket #1148
Add following new NHGRI terms to the DO as well as specific notes associated with each new term.
Human malformation syndromes
Hidrotic Ectodermal dysplasia: Single Gene Disorder/ human malformation syndrome/ hypohidrotic ectodermal dysplasia (DOID:14793) but there isn't a Hidrotic Ectodermal dysplasia/ https://research.nhgri.nih.gov/atlas/condition/
Mucopolysaccharidoses: Single Gene Disorders/ human malformation syndrome/ https://research.nhgri.nih.gov/atlas/condition/
Multiple Lentigenes syndrome: Single Gene Disorders// human malformation syndrome/ https://research.nhgri.nih.gov/atlas/condition/
Multiple Lentigenes syndrome: Single Gene Disorders/ human malformation syndrome/ https://research.nhgri.nih.gov/atlas/condition/
Trichorhinophalangeal syndrome: Single Gene Disorders/ / human malformation syndrome/ The subtypes are in the DO. Add the disease parent term
Clinical Genomic database
Hemophilia: Genetic disorder/ some subtypes seem to be in the DO but not the parent term, add parent term https://www.genome.gov/Genetic-Disorders/Hemophilia
Inborn Errors of Metabolism: Genetic disorder/ Also add as a "disease of metabolism" parent term https://www.genome.gov/Genetic-Disorders/Inborn-Errors-of-Metabolism
Myotonic dystrophy: Genetic disorder/ subtypes seem to be in the DO but not the parent term, add parent term/ https://www.genome.gov/Genetic-Disorders/Myotonic-Dystrophy
Poland anomaly: Genetic disorder/ https://www.genome.gov/Genetic-Disorders/Poland-Anomaly
Porphyrias: Genetic disorder/ https://www.genome.gov/Genetic-Disorders/Porphyria
Red Cell Membrane Disorder Mutations Database