Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hypertelorism, microtia, facial clefting syndrome	DOID_14670	[A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.]
platelet-type bleeding disorder 19	DOID_0111048	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.]
frontal lobe neoplasm	DOID_12016
multiple intestinal atresia	DOID_14671	[An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21.]
platelet-type bleeding disorder 17	DOID_0111049	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.]
platelet-type bleeding disorder 10	DOID_0111046	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.]
platelet-type bleeding disorder 14	DOID_0111047	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.]
susceptibility to systemic lupus erythematosus 9	OMIM_610927
Axenfeld-Rieger syndrome	DOID_14686	[An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.]
pyruvate kinase deficiency of red cells	DOID_0111077	[A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.]
congenital nonspherocytic hemolytic anemia	DOID_2861
diffuse interstitial keratitis	DOID_13353
interstitial keratitis	DOID_9857	[A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation.]
obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease	DOID_12022
diastrophic dysplasia	DOID_14687	[An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.]
tibial muscular dystrophy	DOID_0111078	[A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.]
ego-dystonic sexual orientation	DOID_13352	[A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.]
obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes	DOID_12021
progressive familial heart block type II	DOID_0111075	[A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32.]
progressive familial heart block	DOID_0111073	[A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.]