All terms in DOID

Label Id Description
lethal congenital contracture syndrome 3 DOID_0060653 [A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.]
radius bone UBERON_0001423
forelimb long bone UBERON_0003607
radius endochondral element UBERON_0015001
forelimb zeugopod bone UBERON_0003466
lethal congenital contracture syndrome 4 DOID_0060654 [A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.]
autosomal recessive congenital ichthyosis DOID_0060655 [An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.]
autosomal recessive congenital ichthyosis 1 DOID_0060656 [An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.]
regional part of cerebellar cortex UBERON_0002749
reticulohistiocytic granuloma DOID_4394
histiocytosis DOID_3405 [A lymphatic system disease that is characterized by an excessive number of histiocytes.]
obsolete Henipavirus infectious disease DOID_4393 [A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.]
abdominal segment skin UBERON_0003836
zone of skin UBERON_0000014
pustulosis of palm and sole DOID_4398
dicarboxylic aminoaciduria DOID_0060650 [An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids.]
granulomatous dermatitis DOID_4397
obsolete taste disorder DOID_3067
MYH-9 related disease DOID_0060651 [A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.]
glioblastoma DOID_3068 [A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.]