All terms in DOID

Label Id Description
hereditary spastic paraplegia 90B DOID_0070460 [A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1.]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A DOID_0070461 [A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.]
homoplasmic mitochondrial inheritance GENO_0000893
Yoon-Bellen neurodevelopmental syndrome DOID_0070468 [A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.]
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum DOID_0070469 [An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2.]
carpal tunnel syndrome 1 DOID_0070466 [A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1.]
carpal tunnel syndrome DOID_12169 [A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.]
carpal tunnel syndrome 2 DOID_0070467 [A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.]
mitochondrial complex V (ATP synthase) deficiency nuclear type 7 DOID_0070464 [A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.]
autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 DOID_0070465 [An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3.]
keratosis palmoplantaris striata 3 DOID_0081110 [A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.]
keratosis palmoplantaris striata DOID_0081105 [A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm.]
osteosclerotic metaphyseal dysplasia DOID_0081111 [A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26.]
metaphyseal dysplasia DOID_0080019 [An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.]
Aplasia/Hypoplasia involving the central nervous system HP_0002977
Morphological central nervous system abnormality HP_0002011
Abnormality of the calf HP_0002981
Bowing of the long bones HP_0006487
Peploviricota NCBITaxon_2731361
Heunggongvirae NCBITaxon_2731360