Total: 12287 diseases
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- Nephrogenic diabetes insipidus, autosomal
- Duane syndrome type 2
- Dystonia 3, torsion, X-linked
- Greig cephalopolysyndactyly syndrome
- Hereditary motor and sensory neuropathy with optic atrophy
- Heterotaxy, visceral, 2, autosomal
- Holoprosencephaly 5
- Holt-Oram syndrome
- Myotonic dystrophy type 2
- Ectopia lentis et pupillae
- Ehlers-Danlos-like syndrome due to tenascin-X deficiency
- Protein-losing enteropathy
- Epilepsy, lateral temporal lobe, autosomal dominant
- Erythrocytosis, familial, 4
- Exstrophy-epispadias complex
- Hereditary factor VIII deficiency disease
- Early infantile epileptic encephalopathy 8
- Hyperapobetalipoproteinemia
- Hyperostosis cranialis interna
- GTP cyclohydrolase I deficiency
- Hypocalciuric hypercalcemia, familial, type III
- Leucine-induced hypoglycemia
- Glycogen storage disease, type V
- Hashimoto thyroiditis
- Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial
- Autosomal recessive hypophosphatemic bone disease
- Hypotrichosis 2
- Autosomal recessive congenital ichthyosis 4B
- Ichthyosis, congenital, autosomal recessive 11
- Incontinentia pigmenti syndrome
- Inflammatory bowel disease 25, autosomal recessive
- Deficiency of hyaluronoglucosaminidase
- Idiopathic hypereosinophilic syndrome
- Exercise-induced hyperinsulinemic hypoglycemia
- Hamamy syndrome
- Primary hypomagnesemia
- Autosomal dominant hypophosphatemic rickets
- Hypotrichosis 6
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- Islet cell adenomatosis
- Berger disease
- 11q partial monosomy syndrome
- Joubert syndrome 8
- Keratosis palmoplantaris papulosa
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
- Jackson-Weiss syndrome
- Joubert syndrome 3
- Juvenile polyposis syndrome
- Kaposi sarcoma, susceptibility to
- Norum disease