Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	View info
MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID	View info
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1	View info
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5	View info
MALT LYMPHOMA	View info
MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL	View info
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	View info
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA	View info
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB	View info
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA	View info
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA	View info
MANITOBA OCULOTRICHOANAL SYNDROME; MOTA	View info
MANNOSE-BINDING LECTIN DEFICIENCY; MBLD	View info
MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA	View info
MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB	View info
MANTLE CELL LYMPHOMA	View info
MARDEN-WALKER SYNDROME; MWKS	View info
MARFAN LIPODYSTROPHY SYNDROME; MFLS	View info
MARFAN SYNDROME; MFS	View info
MARIE UNNA HEREDITARY HYPOTRICHOSIS	View info

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