All terms in DOID

Label Id Description
GRID2-related spinocerebellar ataxia DOID_0050988 [An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.]
hypomyelinating leukoencephalopathy DOID_0050987 [An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.]
mononeuritis multiplex DOID_1835
episodic ataxia type 1 DOID_0050989 [An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.]
chronic atrial and intestinal dysrhythmia DOID_0060339 [A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).]
parameningeal embryonal rhabdomyosarcoma DOID_0060338 [An embryonal rhabdomyosarcoma located in the parameningeal region.]
CEDNIK syndrome DOID_0060337 [A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.]
autosomal dominant sideroblastic anemia 4 DOID_0060335 [A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.]
diaphragm UBERON_0001103
pituitary stalk UBERON_0002434
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 DOID_0060332 [A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.]
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 DOID_0060331 [A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.]
obsolete coxsackie endocarditis DOID_1806 [A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.]
Rapp-Hodgkin syndrome DOID_0060330 [An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.]
obsolete coxsackie carditis DOID_1805 [An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.]
obsolete coxsackie pericarditis DOID_1804 [A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea.]
obsolete secondary malignant neoplasm to the pancreas DOID_1801
neuroendocrine carcinoma DOID_1800 [A carcinoma that derives_from neuroendocrine cells.]
ectopic pregnancy DOID_0060329 [A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.]
anal fistula DOID_0060328 [An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.]