Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete mixed hepatoblastoma with teratoid features	DOID_5797
papillary renal cell carcinoma	DOID_4465	[A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.]
obsolete nonresectable hepatoblastoma	DOID_5796
scalp dermatosis	DOID_3136
clear cell adenocarcinoma	DOID_4468	[An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.]
clear cell renal cell carcinoma	DOID_4467	[A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.]
macrotrabecular hepatoblastoma	DOID_5798
obsolete multiple symmetrical lipomatosis	DOID_3137
acanthosis nigricans	DOID_3138
pigmentation disease	DOID_10123	[A skin disease that is characterized by discoloration of the skin.]
idiopathic CD4-positive T-lymphocytopenia	DOID_3109	[A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.]
lymphopenia	DOID_614	[A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.]
Wilson-Turner syndrome	DOID_0060814	[A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.]
Miles-Carpenter syndrome	DOID_0060815	[A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.]
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	DOID_0060816	[A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.]
syndromic X-linked intellectual disability 34	DOID_0060817	[A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.]
syndromic X-linked intellectual disability Abidi type	DOID_0060818	[A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2.]
syndromic X-linked intellectual disability Chudley-Schwartz type	DOID_0060819	[A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.]
syndromic X-linked intellectual disability type 10	DOID_0060810	[A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.]
syndromic X-linked intellectual disability Turner type	DOID_0060811	[A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.]