| | Disease name | Disease category |
| HPRL | H01388 | Hyperprolactinemia | Endocrine and metabolic disease |
| LEPD | H02059 | Leptin deficiency | Endocrine and metabolic disease |
| LEPRD | H02060 | Leptin receptor deficiency | Endocrine and metabolic disease |
| ADPOD | H00967 | Adiponectin deficiency | Inherited metabolic disorder |
| MODY14 | H00410 | Maturity onset diabetes of the young (MODY) | Endocrine and metabolic disease |
| T1D2/MODY10/PNDM4 | H00408 | Type 1 diabetes mellitus | Metabolic disease |
| H00410 | Maturity onset diabetes of the young (MODY) | Endocrine and metabolic disease |
| H00512 | Permanent neonatal diabetes mellitus | Endocrine and metabolic disease |
| DS/RMS/IRAN/HHF5 | H00719 | Leprechaunism | Endocrine and metabolic disease |
| H00942 | Rabson-Mendenhall syndrome | Endocrine and metabolic disease |
| H01228 | Insulin-resistant diabetes mellitus with acanthosis nigricans | Metabolic disease |
| H01267 | Familial hyperinsulinemic hypoglycemia | Inherited metabolic disorder |
| CHNG9 | H00250 | Congenital nongoitrous hypothyroidism (CHNG) | Endocrine and metabolic disease |
| ATFB6/ATRST2 | H00731 | Atrial fibrillation | Cardiovascular disease |
| H02674 | Atrial standstill | Cardiovascular disease |
| ATT8 | H00801 | Familial thoracic aortic aneurysm and dissection | Cardiovascular disease |
| AMD4/SMDP | H02543 | Acromesomelic dysplasia | Congenital malformation |
| H02185 | Spondylometaphyseal dysplasia | Congenital malformation |
| AMD1/SNSK | H02543 | Acromesomelic dysplasia | Congenital malformation |
| H02681 | Short stature with nonspecific skeletal abnormalities | Congenital malformation |
| ECDM | H02679 | Miura-type epiphyseal chondrodysplasia | Congenital malformation |
| NPDI | H00253 | Neurohypophyseal diabetes insipidus | Endocrine and metabolic disease |
| NSIAD | H01294 | Nephrogenic syndrome of inappropriate antidiuresis | Endocrine and metabolic disease |
| HH4 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |
| HH3 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |
| ARCND3 | H01884 | Auriculocondylar syndrome | Congenital malformation |
| HSCR4/WS4B | H00910 | Hirschsprung disease | Congenital malformation |
| H00759 | Waardenburg syndrome | Inherited metabolic disorder |
| MFDA | H02126 | Mandibulofacial dysostosis with alopecia | Congenital malformation |
| HSCR2/WS4A/ABCDS | H00910 | Hirschsprung disease | Congenital malformation |
| H00759 | Waardenburg syndrome | Inherited metabolic disorder |
| H00823 | ABCD syndrome | Congenital malformation |
| ETL8 | H00809 | Familial epilepsy temporal lobe (ETL) | Nervous system disease |
| NRCLP1 | H01293 | Narcolepsy | Nervous system disease |
| ADHR | H00214 | Hypophosphatemic rickets | Inherited metabolic disorder |
| HFTC2 | H01193 | Familial tumoral calcinosis | Inherited metabolic disorder |
| HFTC3 | H01193 | Familial tumoral calcinosis | Inherited metabolic disorder |
| PHA2C | H00243 | Renal tubular acidosis type 4 | Urinary system disease |
| HSAN2A | H00265 | Hereditary sensory and autonomic neuropathy | Nervous system disease |
| PHA2B | H00243 | Renal tubular acidosis type 4 | Urinary system disease |
| NPHLOP2 | H00888 | Nephrolithiasis/osteoporosis, hypophosphatemic | Urinary system disease |
| NPHLOP1/FRTS2/HCINF2 | H00888 | Nephrolithiasis/osteoporosis, hypophosphatemic | Urinary system disease |
| H01198 | Fanconi renotubular syndrome | Inherited metabolic disorder |
| H01371 | Hypercalcemia infantile | Inherited metabolic disorder |
| HHRH | H00214 | Hypophosphatemic rickets | Inherited metabolic disorder |
| GTLMNS | H00240 | Gitelman syndrome | Endocrine and metabolic disease |