All terms in DOID

Label Id Description
animal material FOODON_03420164
autosomal recessive cutis laxa type III DOID_0070143 [A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.]
cutis laxa DOID_3144 [A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.]
susceptibility to childhood absence epilepsy 6 MIM_611942
autosomal recessive cutis laxa type I DOID_0070144 [A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.]
autosomal recessive cutis laxa type II classic type DOID_0070141 [A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.]
autosomal dominant cutis laxa DOID_0070142 [A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.]
autosomal recessive cutis laxa type IIC DOID_0070140 [An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.]
Decreased corneal thickness HP_0100689
Abnormal corneal thickness HP_0011486
hereditary sensory and autonomic neuropathy type 7 DOID_0070149 [A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.]
hereditary sensory neuropathy type 2C DOID_0070147 [A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.]
hereditary sensory neuropathy type 1B DOID_0070148 [A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22.]
susceptibility to idiopathic generalized epilepsy 5 MIM_611934
hereditary sensory and autonomic neuropathy type 5 DOID_0070145 [A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.]
hereditary sensory neuropathy type 4 DOID_0070146 [A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.]
Increased corneal curvature HP_0100692
Abnormality of the curvature of the cornea HP_0100691
Abnormal cornea morphology HP_0000481
hereditary sensory neuropathy type 1F DOID_0070154 [A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.]