All terms in DOID

Label Id Description
spermatogenic failure 12 DOID_0070171 [A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26.]
spermatogenic failure 10 DOID_0070178 [A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.]
spermatogenic failure 14 DOID_0070179 [A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13.]
animal food product FOODON_00004242
food material FOODON_00002403
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.]
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