Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Hypotrichosis simplex

Hereditary hypotrichosis simplex

ORPHA:55654

Hypotrichosis simplex of the scalp

Hereditary hypotrichosis simplex of the scalp

ORPHA:90368

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

ORPHA:56

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

ORPHA:3197

Hereditary hypotrichosis with recurrent skin vesicles

ORPHA:217407

Hereditary neuroendocrine tumor of small intestine

Small intestine hereditary neuroendocrine tumor · Hereditary neuroendocrine tumor of small bowel

ORPHA:456333

Hereditary spherocytosis

Minkowski-Chauffard disease

ORPHA:822

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

ORPHA:444