Phenotypes associated with the disease PYGMY (OMIM:265850):
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: IEA. (OMIM:265850)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Onset: Infantile onset (HP:0003593). (OMIM:265850)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:265850)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:265850)
- Non-Mendelian inheritance (HP:0001426): A mode of inheritance that depends on genetic determinants in more than one gene. Evidence: IEA. (OMIM:265850)