Functioning neuroendocrine tumor of pancreas

Adult, Elderly

Galactosemia

Autosomal recessive

Childhood, Infancy, Neonatal

Genetic congenital malformation of the eye with glaucoma as a major feature

Neonatal

Genetic peripheral neuropathy

Germ cell tumor

Global cerebellar malformation

Glycogen storage disease

Hemophagocytic syndrome

Adolescent, Childhood, Infancy

Hereditary ataxia

Hereditary episodic ataxia

Histiocytic and dendritic cell tumor

Human prion disease

Adult

Idiopathic inflammatory myopathy

Indolent B-cell non-Hodgkin lymphoma

Adult

Inherited epidermolysis bullosa

Autosomal dominant, Autosomal recessive

All ages

Inherited ichthyosis

Inherited ichthyosis syndromic form

Inherited non-syndromic ichthyosis

Interstitial lung disease

Intractable diarrhea of infancy

Childhood

Isolated rare lymphatic malformation

Not applicable

Infancy, Neonatal

Jejunal neuroendocrine tumor

Adult

Joubert syndrome and related disorders

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Laminopathy with lipodystrophy