Hereditary disease
Rare disease
No
- Definition
- A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.
- Genetic basis
- No
- Non-human condition
- No
- Rare disease
- No
- Listing at source
- Listed
- Condition name
- Hereditary disease
- hereditary disease
- Genetic Condition
- Genetic Disease
- Genetic Diseases
- Genetic Disorder
- Genetic Disorders
- hereditary disease or disorder
- hereditary diseases
- Hereditary Disorder
- inherited disease
- inherited genetic disease
- Mendelian Disorders
- molecular disease
- Mendelian disease
- Severity
- Unknown
- Genetic
- Hereditary
Sources for recorded values
- MONDO ID
- MONDO:0003847
- Parent condition
- MONDO:7770009
Related records
Broader conditions (4)
- Disease
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Human disease
Narrower conditions (11,784)
- 10p13-p14 deletion syndrome
- 17q11.2 microduplication syndrome
- 2-aminoadipic 2-oxoadipic aciduria
- 2-hydroxyglutaric aciduria
- 2-methylacetoacetyl CoA thiolase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 22q-related schwannomatosis
- 2q37 microdeletion syndrome
- 3-hydroxy-3-methylglutaric aciduria
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-hydroxyisobutyric aciduria
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-M syndrome
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria
- 3-methylglutaconic aciduria type 1
- 3-methylglutaconic aciduria type 3
Trials (697)
- 4D-310 in Adults With Fabry Disease and Cardiac Involvement
- A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
- A Clinical Study to Assess the Efficacy and Safety of DA-3002
- A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia
- A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia
- A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia
- A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CF
- A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia
- A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia
- A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
- A Gene Transfer Study for Hemophilia A
- A Long-term Follow-up Study in Participants Who Received CTX001
- A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)
- A Long-Term Follow-Up Study of Participants With Sickle Cell Disease or Transfusion Dependent β-Thalassemia Who Received EDIT-301
- A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
- A Long-Term Observational Study of Patients With Fucosidosis
- A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia
- A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II
- A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
- A Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of ATTRv Amyloidosis With a V122I or T60A Mutation
Approved drugs (3)
- .ALPHA.1-proteinase inhibitor human
- Asfotase alfa
- Mitapivat sulfate
Drugs in development (10)
- Alemtuzumab Phase 1
- Antilymphocyte immunoglobulin (horse) Phase 2
- Busulfan Phase 1
- Conestat alfa Phase 2
- Cyclophosphamide Phase 1
- Cyclosporine Phase 1
- ELX-02 Phase 1
- Fludarabine Phase 2
- Melphalan Phase 2
- Methotrexate Phase 1