Total: 12120 diseases

• 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
• Norum disease
• Lenz-Majewski hyperostosis syndrome