All terms in DOID

Label Id Description
Charcot-Marie-Tooth disease intermediate type DOID_0050543 [A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.]
short-rib thoracic dysplasia 19 with or without polydactyly DOID_0080295 [An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.]
asphyxiating thoracic dystrophy DOID_0050592 [A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.]
hypomyelinating leukodystrophy 14 DOID_0080296 [A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.]
Coffin-Siris syndrome 6 DOID_0080297 [A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.]
familial erythrocytosis 5 DOID_0080290 [A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.]
developmental and epileptic encephalopathy 59 DOID_0080291 [A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.]
retinitis pigmentosa 81 DOID_0080292 [A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.]
short-rib thoracic dysplasia 18 with polydactyly DOID_0080293 [An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.]
susceptibility to focal segmental glomerulosclerosis 4 MIM_612551
hypotrichosis of eyelid DOID_11671
swelling symptom SYMP_0000716
autosomal dominant nonsyndromic deafness 73 DOID_0080269 [An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21.]
obsolete residual subchronic schizophrenia DOID_10340
leg swelling SYMP_0000717
Urethral obstruction HP_0000796
intraretinal hemorrhage SYMP_0000714
skin desquamation SYMP_0000715 [A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales.]
skin peeling SYMP_0020048
susceptibility to familial breast-ovarian cancer 2 MIM_612555