All terms in DOID

Label Id Description
multiple mitochondrial dysfunctions syndrome DOID_0070330 [A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment.]
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition DOID_0060982 [A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22.]
mosaic variegated aneuploidy syndrome DOID_0080688 [A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.]
mitochondrial DNA depletion syndrome 8b DOID_0070331 [A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.]
sitosterolemia 2 DOID_0060983 [A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.]
sitosterolemia DOID_0090019 [An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.]
digenic dyskeratosis congenita DOID_0060984 [A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11.]
preaxial polydactyly type IV DOID_0060985 [A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14.]
polydactyly DOID_1148 [A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.]
preaxial polydactyly II DOID_0060986 [A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.]
preaxial polydactyly I DOID_0060987 [A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.]
pancreatic agenesis 2 DOID_0060988 [A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.]
pancreatic agenesis DOID_0050877 [A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.]
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID_0060989 [A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12.]
cerebellar hypoplasia DOID_0070338 [A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.]
cerebellar disease DOID_2786 [A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome.]
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay DOID_0070339 [A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.]
arthrogryposis multiplex congenita-6 DOID_0070336 [An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.]
arthrogryposis multiplex congenita DOID_0080954 [A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.]
epithelial recurrent erosion dystrophy DOID_0070337 [An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity.]