Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
lethal congenital contracture syndrome	DOID_0060558	[A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.]
spinal disease	DOID_0060564	[A bone disease that is located_in the spine.]
vertebral column	UBERON_0001130
anatomical entity	UBERON_0001062
lethal congenital contracture syndrome 1	DOID_0060559	[A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.]
organism subdivision	UBERON_0000475
multicellular anatomical structure	UBERON_0010000
ablepharon macrostomia syndrome	DOID_0060550	[A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.]
poikiloderma with neutropenia	DOID_0060551	[A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.]
nonsynovial joint	UBERON_0011134
skeletal joint	UBERON_0000982
Leptospira	NCBITaxon_171
Leptospiraceae	NCBITaxon_170
Leptospirales	NCBITaxon_1643688
Hermansky-Pudlak syndrome 4	DOID_0060542	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.]
Hermansky-Pudlak syndrome	DOID_3753	[A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.]
Hermansky-Pudlak syndrome 5	DOID_0060543	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.]
Hermansky-Pudlak syndrome 6	DOID_0060544	[A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.]
epithelium	UBERON_0000483
tissue	UBERON_0000479