| | 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 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | Urinary system disease |
HSAN2A | H00265 | Hereditary sensory and autonomic neuropathy | Nervous system disease |
PHA2B | H00243 | Hyperkalemic distal renal tubular acidosis (RTA 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 |