Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
auditory system	UBERON_0016490
familial febrile seizures 1	DOID_0111307	[A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21.]
familial febrile seizures 11	DOID_0111308	[A familial febrile seizures that has_material_basis_in homozygous mutation in CPA6 on chromosome 8p13.2.]
combined saposin deficiency	DOID_0111330	[A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1.]
3-methylglutaconic aciduria type 5	DOID_0110000	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26.]
intellectual disability-severe speech delay-mild dysmorphism syndrome	DOID_0111331	[A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in FOXP1 on chromosome 3p13.]
Sylvaemus group	NCBITaxon_400053
achromatopsia 2	DOID_0110007	[An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.]
achromatopsia	DOID_13911	[A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.]
isolated elevated serum creatine phosphokinase levels	DOID_0111338	[An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3.]
achromatopsia 3	DOID_0110008	[An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.]
Vohwinkel syndrome	DOID_0111339	[A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11.]
Leber congenital amaurosis 9	DOID_0110005	[A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36.]
craniofacial-deafness-hand syndrome	DOID_0111336	[A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1.]
3-methylglutaconic aciduria type 4	DOID_0110006	[A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.]
Jackson-Weiss syndrome	DOID_0111337	[A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13.]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	DOID_0110003	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.]
congenital leptin deficiency	DOID_0111334	[A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.]
3-methylglutaconic aciduria type 3	DOID_0110004	[A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.]
myopathy with extrapyramidal signs	DOID_0111335	[A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1.]