All terms in DOID

Label Id Description
Quintoviricetes NCBITaxon_2732422
collection of basal ganglia UBERON_0010011
Zurhausenvirales NCBITaxon_2732533
Abnormality of the middle ear HP_0000370
Abnormal ear morphology HP_0031703
sex-limited autosomal recessive inheritance GENO_0000953
autosomal recessive inheritance GENO_0000148
sex-limited autosomal dominant inheritance GENO_0000952
autosomal dominant inheritance GENO_0000147
hereditary spastic paraplegia 30B DOID_0070646 [A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37.]
hereditary spastic paraplegia 30 DOID_0110781 [A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.]
hereditary spastic paraplegia 30A DOID_0070647 [A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37.]
Abnormality of the gastrointestinal tract HP_0011024
hereditary spastic paraplegia 92 DOID_0070644 [A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23.]
hereditary spastic paraplegia 93 DOID_0070645 [A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.]
hereditary spastic paraplegia 72B DOID_0070642 [A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31.]
hereditary spastic paraplegia 91 DOID_0070643 [A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.]
Abnormality of blood circulation HP_0011028
Abnormal cardiovascular system physiology HP_0011025
hereditary spastic paraplegia 18A DOID_0070640 [A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11.]