Abbreviation | Complete name | Phenotype | Prevalence (%) | HPO terms added in each category |
VI | Vision impairments | History of nystagmus in infancy/childhood, legal blindness, and cone and rod dystrophy by electroretinogram (ERG) | 97.80 | HP:0000556 (retinal dystrophy), HP:0000639 (nystagmus), HP:0000618 (blindness) |
MT | Metabolic anomalies | Obesity and/or insulin resistance and/or T2DM | 85.02 | HP:0001513 (obesity), HP:0005978 (T2DM) |
HL | Hearing anomalies | Hearing loss | 59.91 | HP:0000365 (hearing loss) |
HRT | Heart anomalies | History of DCM/CHF | 49.34 | HP:0001644 (DCM), HP:0001635 (CHF) |
LIV | Liver anomalies | Hepatic dysfunction | 36.56 | HP:0001410 (decreased liver function) |
REN | Renal anomalies | Renal failure | 29.52 | HP:0000077 (renal anomaly) |
MEND | Mental anomalies | Mental disability | 24.67 | HP:0001249 (intellectual disability) |
PUL | Pulmonary anomalies | Pulmonary dysfunction | 19.38 | HP:0002795 (impaired pulmonary function) |
REP | Reproductive system anomalies | Males: hypogonadism; females: irregular menses and/or hyperandrogenism | 17.62 | HP:0000026 (male hypogonadism), HP:0000858 (irregular menstruation) |
TYD | Thyroid metabolism anomalies | Thyroid disorders | 14.54 | HP:0000820 (abnormality of the thyroid gland) |
SCO | Spine/feet anomalies | Scoliosis/flat wide feet | 13.22 | HP:0002650 (scoliosis), HP:0001763 (pes planus) |
SHS | Stature anomalies | Short stature | 9.25 | HP:0004322 (short stature) |
ALO | Alopecia | Alopecia | 6.17 | HP:0001596 (alopecia) |
NER | Nervous system anomalies | Epilepsy | 3.08 | HP:0001250 (seizure) |
ABFING | Finger anomalies | Abnormal appearance of a finger | 1.32 | HP:0001155 (abnormality of the hand) |
INT | Intestinal anomalies | Intestinal problems | 1.32 | HP:0011024 (abnormality of the gastrointestinal tract) |
CHF, congestive heart failure; DCM, dilated cardiomyopathy; HPO, Human Phenotype Ontology; T2DM, type 2 diabetes mellitus.