All terms in DOID

Label Id Description
syndromic intellectual disability DOID_0050888 [An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.]
impaired coordination SYMP_0000304 [A coordination symptom that is characterized by weakened or imperfect body complicated movement, which may be caused by disease, injury, or toxins.]
diffuse leptomeningeal glioneuronal tumor DOID_0081302 [A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.]
mitochondrial inheritance GENO_0000949
Ramon syndrome DOID_0070650 [A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.]
lymphomatoid granulomatosis DOID_0081307 [A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.]
grade I lymphomatoid granulomatosis DOID_0081308 [A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.]
grade II lymphomatoid granulomatosis DOID_0081309 [A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.]
Y-linked inheritance GENO_0000941
allosomal inheritance GENO_0000935
congenital variant of Rett syndrome DOID_0070657 [A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.]
pervasive developmental disorder DOID_0060040 [A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.]
alcohol-associated liver disease DOID_0070658 [A liver disease resulting from excessive alcohol intake.]
liver disease DOID_409
Abnormal renal cortex morphology HP_0011035
Usher syndrome type 1B DOID_0070655 [An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13.]
Usher syndrome type 1 DOID_0110826 [An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.]
Abnormality of fluid regulation HP_0011032
Abnormal homeostasis HP_0012337
hamartoma syndrome DOID_0070656 [A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer.]