All terms in DOID

Label Id Description
endometriosis of intestine DOID_11428 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine.]
endosalpingiosis DOID_11427 [A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.]
obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid DOID_12758
acromesomelic dysplasia, Grebe type DOID_0080052 [An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.]
ataxia-oculomotor apraxia type 4 DOID_0081383 [An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.]
ataxia-telangiectasia-like disorder-1 DOID_0081384 [An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.]
Albright's hereditary osteodystrophy DOID_0080053 [An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.]
pseudohypoparathyroidism DOID_4184
achondrogenesis type IA DOID_0080054 [An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.]
ataxia-telangiectasia-like disorder-2 DOID_0081385 [An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.]
TANGO2-related metabolic encephalopathy and arrythmias DOID_0081386 [A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.]
achondrogenesis type IB DOID_0080055 [An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.]
amyotrophic lateral sclerosis type 26 DOID_0081380 [An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.]
juvenile amyotrophic lateral sclerosis type 27 DOID_0081381 [An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.]
acromesomelic dysplasia, Maroteaux type DOID_0080050 [An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.]
Abnormal eosinophil morphology HP_0001879
amyotrophic lateral sclerosis type 28 DOID_0081382 [An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.]
acromesomelic dysplasia, Hunter-Thompson type DOID_0080051 [An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.]
Kitrinoviricota NCBITaxon_2732406
epidermolytic hyperkeratosis 1 DOID_0081358 [An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.]