All terms in DOID

Label Id Description
coding_transcript_intron_variant SO_0001969
Myoclonus HP_0001336
Involuntary movements HP_0004305
otosclerosis 8 DOID_0060926 [An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11.]
5_prime_UTR_intron_variant SO_0002091
otosclerosis 10 DOID_0060927 [An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44.]
intellectual disability DOID_1059 [A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.]
5_prime_UTR_exon_variant SO_0002092
otosclerosis 11 DOID_0060928 [An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24.]
obsolete amino acid transport disease DOID_1058
structural_interaction_variant SO_0002093
3D_polypeptide_structure_variant SO_0001599
non-syndromic X-linked intellectual developmental disorder 111 DOID_0060929 [A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27.]
non-syndromic X-linked intellectual disability DOID_0050776 [A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.]
obsolete inborn amino acid transport disorder DOID_1057
oculocerebrorenal syndrome DOID_1056 [A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.]
Abnormality of body height HP_0000002
obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes DOID_1055
obsolete glaucoma associated with chamber angle anomalies DOID_1054
obsolete developmental dislocation of joint DOID_1053