All terms in DOID

Label Id Description
exudative vitreoretinopathy DOID_0050535 [A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.]
autosomal recessive spinocerebellar ataxia 26 DOID_0080260 [An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.]
palate weakness SYMP_0000727
obsolete mammary duct ectasia DOID_10351
partial hind limb paralysis SYMP_0000728
obsolete ocular onchocerciasis DOID_11680 [A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness.]
necrosis of jejunum SYMP_0000725
painful reginal lymphadenopathy SYMP_0000726
lymphadenopathy SYMP_0019142
multiple abscesses SYMP_0000723
abscess SYMP_0000672
Joubert syndrome 29 DOID_0080276 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.]
Joubert syndrome DOID_0050777 [A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.]
multiple organ failure SYMP_0000724
Joubert syndrome 31 DOID_0080277 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.]
moderate anemia SYMP_0000721
Joubert syndrome 32 DOID_0080278 [A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.]
moderate conjuctival injection SYMP_0000722
Joubert syndrome 33 DOID_0080279 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.]
large cell carcinoma with rhabdoid phenotype DOID_7480