All terms in DOID

Label Id Description
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.]
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.]
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.]
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.]
acromesomelic dysplasia, Maroteaux type DOID_0080050 [An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13.]
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.]
Abnormal eosinophil morphology HP_0001879
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.]
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.]
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.]
spondyloepimetaphyseal dysplasia, Strudwick type DOID_0080028 [A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).]
epidermolytic hyperkeratosis 2 DOID_0081359 [An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21.]
autosomal recessive spinocerebellar ataxia 16 DOID_0080029 [An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.]
susceptibility to autosomal dominant parkinson disease 5 MIM_613643
congenital myopathy 22A DOID_0081354 [A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.]
obsolete Shwachman-Diamond type metaphyseal dysplasia DOID_0080023
Increased total eosinophil count HP_0001880
Abnormal total eosinophil count HP_0020064