10 Disease Ontologies found (0.009 seconds)

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

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

Cockayne syndrome B [DOID:0080908]

A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.

Charcot-Marie-Tooth disease intermediate type [DOID:0050543]

A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.

primary localized cutaneous amyloidosis 1 [DOID:0080930]

A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.

selective IgM deficiency disease [DOID:0050222]

A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.

androgenic alopecia [DOID:0050801]

An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.

indolent plasma cell myeloma [DOID:9550]

A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm.

lymphoplasmacytic lymphoma [DOID:0060901]

A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

CD40 ligand deficiency [DOID:0060022]

A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.