Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
syndromic X-linked intellectual disability Hedera type	DOID_0060806	[A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.]
syndromic X-linked intellectual disability Najm type	DOID_0060807	[A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.]
syndromic X-linked intellectual disability 7	DOID_0060808	[A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22.]
syndromic X-linked intellectual disability Claes-Jensen type	DOID_0060809	[A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.]
Calomys laucha	NCBITaxon_56211
Calomys	NCBITaxon_29105
syndromic X-linked intellectual disability 5	DOID_0060800	[A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.]
Calomys musculinus	NCBITaxon_56212
MEHMO syndrome	DOID_0060801	[A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1.]
syndromic X-linked intellectual disability Snyder type	DOID_0060802	[A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.]
Calomys callosus	NCBITaxon_56210
obsolete Mycobacterium avium complex lymphadenitis	DOID_5771
obsolete Mycobacterium avium-intracellulare lymphadenitis	DOID_5770
papillary cystadenocarcinoma	DOID_3110	[A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.]
cystadenocarcinoma	DOID_3111	[An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.]
cervical alveolar soft part sarcoma	DOID_4442	[An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.]
oral submucous fibrosis	DOID_5773
dysgerminoma	DOID_4441	[A germ cell cancer that derives_from cells that give rise to egg cells.]
malignant cystadenoma	DOID_60004
papillary adenocarcinoma	DOID_3112	[An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.]