Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congenital muscular dystrophy 1B	DOID_0110634	[A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.]
muscular dystrophy-dystroglycanopathy type B5	DOID_0110635	[A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.]
megaconial type congenital muscular dystrophy	DOID_0110632	[A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.]
rigid spine muscular dystrophy 1	DOID_0110633	[A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.]
Wolfram syndrome 2	DOID_0110630	[An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.]
arthrogryposis due to muscular dystrophy	DOID_0110631	[A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome.]
chronic kidney disease	DOID_784
end stage renal failure	DOID_783
renal infectious disease	DOID_782
congenital muscular dystrophy merosin-positive	DOID_0110638	[A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3.]
obsolete hypotony of eye associated with another ocular disorder	DOID_789
congenital muscular dystrophy due to integrin alpha-7 deficiency	DOID_0110639	[A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.]
congenital merosin-deficient muscular dystrophy 1A	DOID_0110636	[A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.]
muscular dystrophy-dystroglycanopathy type B6	DOID_0110637	[A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.]
multinodular goiter	DOID_0050489	[A goiter characterized by a multinodular enlargement of the thyroid gland.]
early congenital syphilis	DOID_0050488	[A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.]
adrenal carcinoma	DOID_3950	[An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
obsolete ductal, lobular, and medullary neoplasm	DOID_2620
obsolete neuroblastic tumor	DOID_2622
obsolete neuronal and glio-neuronal neoplasm	DOID_2623