All terms in DOID

Label Id Description
Ataxia HP_0001251
Abnormality of coordination HP_0011443
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.]
Hypotonia HP_0001252
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 is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the 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.]
uterine ligament UBERON_0036262
nasal cavity disease DOID_2163
lipomatosis DOID_3153
supraglottic part of larynx UBERON_0036263
malignant biphasic mesothelioma DOID_4486
malignant mesothelioma DOID_1790 [A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.]
hypomelanosis of Ito DOID_3156 [A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).]
sarcomatoid mesothelioma DOID_4488
obsolete congenital melanocytic nevus DOID_3157
hand dermatosis DOID_3158