All terms in DOID

Label Id Description
central nervous system cancer DOID_3620 [A nervous system cancer that is located_in the central nervous system.]
toxascariasis DOID_3107 [A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite.]
ascaridiasis DOID_3108 [A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.]
central nervous system germinoma DOID_4438
verruciform xanthoma of skin DOID_5769
syndromic X-linked intellectual disability 17 DOID_0060803 [A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.]
syndromic X-linked intellectual disability 12 DOID_0060804 [A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11.]
Prieto syndrome DOID_0060805 [A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11.]
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 behavioral 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 hemizygous mutation in the EIF2S3 gene on chromosome Xp22.]
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