Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Meckel syndrome 3	DOID_0070117	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1.]
Niemann-Pick disease type C2	DOID_0070114	[A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3.]
Meckel syndrome 1	DOID_0070115	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22.]
Niemann-Pick disease type B	DOID_0070112	[A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.]
Niemann-Pick disease type C1	DOID_0070113	[A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.]
immunodeficiency with hyper IgM type 5	DOID_0060759	[A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.]
hyper IgM syndrome	DOID_0080544	[A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.]
Pneumocystidaceae	NCBITaxon_44281
Pneumocystidales	NCBITaxon_37987
familial temporal lobe epilepsy 7	DOID_0060751	[A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.]
familial temporal lobe epilepsy 5	DOID_0060752	[A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.]
familial temporal lobe epilepsy 4	DOID_0060753	[A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.]
familial temporal lobe epilepsy 8	DOID_0060754	[A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.]
familial temporal lobe epilepsy 2	DOID_0060755	[A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.]
sclerosteosis 1	DOID_0060756	[A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.]
sclerosteosis	DOID_0060251	[A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.]
sclerosteosis 2	DOID_0060757	[A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.]
immunodeficiency with hyper-IgM type 2	DOID_0060758	[A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.]
familial temporal lobe epilepsy 3	DOID_0060750	[A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.]
familial temporal lobe epilepsy 1	DOID_0060748	[A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.]