porphyria cutanea tarda

An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.

Bloom syndrome

A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

X-linked spinocerebellar ataxia 4

An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.

X-linked cerebellar ataxia

A hereditary ataxia characterized by X-linked inheritance.

X-linked spinocerebellar ataxia 3

An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.

deafness-intellectual disability, Martin-Probst type syndrome

A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.

X-linked central diabetes insipidus

A central diabetes insipidus that has_material_basis_in X-linked inheritance.

X-linked dominant disease

A X-linked monogenic disease that has_material_basis_in dominant inheritance.

X-linked recessive disease

A X-linked monogenic disease that has_material_basis_in recessive inheritance.

X-linked hereditary ataxia

A hereditary ataxia that is characterized by X-linked inheritance.