Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
X-linked myopathy with excessive autophagy	DOID_0050760	[A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.]
adenylosuccinase lyase deficiency	DOID_0050762	[An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.]
paramyloidosis	DOID_0050761
leukocyte adhesion deficiency 1	DOID_0110910	[A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.]
cutaneous appendage	UBERON_0000021
hereditary spherocytosis type 2	DOID_0110917	[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3.]
hereditary spherocytosis type 3	DOID_0110918	[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1.]
childhood hypophosphatasia	DOID_0110915	[A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12.]
hypophosphatasia	DOID_14213	[A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12.]
hereditary spherocytosis type 1	DOID_0110916	[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21.]
adult hypophosphatasia	DOID_0110913	[A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12.]
infantile hypophosphatasia	DOID_0110914	[A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.]
leukocyte adhesion deficiency 3	DOID_0110912	[A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.]
Armfield syndrome	DOID_0050764	[A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.]
choreaacanthocytosis	DOID_0050766	[A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.]
neuroacanthocytosis	DOID_0050765	[A neurodegenerative disease that is characterized by acanthocytosis, chorea, progressive cognitive impairment, muscle weakness and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.]
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	DOID_0050768	[A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.]
midface dysplasia	DOID_0050767	[An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.]
hereditary spherocytosis type 4	DOID_0110919	[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31.]
N syndrome	DOID_0050769	[A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.]