All terms in DOID

Label Id Description
Wiedemann-Rautenstrauch syndrome DOID_0081333 [A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.]
Nestor-Guillermo progeria syndrome DOID_0081334 [A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.]
Becker disease DOID_0081335 [A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.]
cerebral artery occlusion DOID_10127 [A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries.]
pseudotumor cerebri DOID_11459
intracranial hypertension DOID_9428 [A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.]
brain compression DOID_11457 [A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.]
acute hydrops keratoconus DOID_10125 [A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane.]
keratoconus DOID_10126 [A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.]
diabetic polyneuropathy DOID_12785
diabetic neuropathy DOID_9743
obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations DOID_12784
obsolete degenerative disorder of eyelid and periocular area DOID_10121
hyperpigmentation of eyelid DOID_10122 [An eyelid disease that is characterized by dark eyelids.]
migraine without aura DOID_12783 [A migraine that is characterized by migraine headaches that are not accompanied by an aura.]
migraine DOID_6364 [A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.]
perinatal jaundice due to hepatocellular damage DOID_11452
obsolete dissecting aortic aneurysm DOID_7683
obsolete mixed choriocarcinoma and teratoma of the testis DOID_7681
gallamine CHEBI_503442