|
hereditary ataxia
|
DOID_0050951 |
[A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.] |
|
bulimia nervosa
|
DOID_12129 |
[An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.] |
|
obsolete secondary syphilitic hepatitis
|
DOID_13459 |
[A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions.] |
|
pica disease
|
DOID_12128 |
[An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.] |
|
KBG syndrome
|
DOID_14780 |
[A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.] |
|
susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms
|
MIM_616871 |
|
|
neurotrophic keratoconjunctivitis
|
DOID_12125 |
|
|
episcleritis periodica fugax
|
DOID_12124 |
[A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate.] |
|
olivopontocerebellar atrophy
|
DOID_14784 |
[A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.] |
|
gonococcal synovitis
|
DOID_13454 |
|
|
synovitis
|
DOID_2703 |
[A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.] |
|
postinflammatory pulmonary fibrosis
|
DOID_12123 |
|
|
French Canadian Leigh disease
|
DOID_0111180 |
[A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.] |
|
Dubowitz syndrome
|
DOID_14796 |
[A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.] |
|
obsolete Yersinia enterocolitica intestinal infectious disease
|
DOID_12133 |
[A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children).] |
|
molybdenum cofactor deficiency
|
DOID_0111165 |
[A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.] |
|
granulomatosis with polyangiitis
|
DOID_12132 |
[An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.] |
|
molybdenum cofactor deficiency type C
|
DOID_0111166 |
[A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.] |
|
susceptibility to melioidosis
|
MIM_615557 |
|
|
Blount's disease
|
DOID_14798 |
[An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.] |