27 Disease Ontologies found (0.025 seconds)

Carey-Fineman-Ziter syndrome [DOID:0080194]

A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.

psoriasis 1 [DOID:0111286]

A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33.

COX deficiency, benign infantile mitochondrial myopathy [DOID:0081377]

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

COX deficiency, infantile mitochondrial myopathy [DOID:0050713]

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Charcot-Marie-Tooth disease type 2B1 [DOID:0110156]

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

mitochondrial complex IV deficiency nuclear type 23 [DOID:0070485]

A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.

hypertrophic cardiomyopathy 4 [DOID:0110310]

A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

scurvy [DOID:13724]

A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.

diffuse large B-cell lymphoma germinal center B-cell type [DOID:0080997]

A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.

Papillon-Lefevre disease [DOID:3389]

An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.

load 10 more results