Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Intestinal bleeding	HP_0002584	[Bleeding from the intestines.]
Encephalitozoon intestinalis	NCBITaxon_58839
Encephalitozoon	NCBITaxon_6033
isolated microphthalmia 1	DOID_0060840	[An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32.]
Abnormality of nervous system physiology	HP_0012638	[A functional anomaly of the nervous system.]
isolated microphthalmia 8	DOID_0060841	[An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.]
isolated microphthalmia 3	DOID_0060842	[An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.]
Muscular hypotonia	HP_0001252	[Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.]
Abnormal muscle tone	HP_0003808
hereditary neuropathy with liability to pressure palsies	DOID_0060843	[A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.]
neuropathy	DOID_870	[A nervous system disease that is located_in nerves or nerve cells.]
Norrie disease	DOID_0060844	[A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.]
achondroplasia	DOID_4480	[An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.]
allergic rhinitis	DOID_4481	[A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.]
rhinitis	DOID_4483	[A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.]
skin carcinoma	DOID_3451	[A skin cancer that is located_in tissues of the skin and develops from epithelial cells.]
uterine ligament	UBERON_0036262
nasal cavity disease	DOID_2163
lipomatosis	DOID_3153
supraglottic part of larynx	UBERON_0036263