All terms in DOID

Label Id Description
junctional epidermolysis bullosa Herlitz type DOID_0060737 [A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.]
junctional epidermolysis bullosa non-Herlitz type DOID_0060738 [A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.]
Gadariae NCBITaxon_1489843
hand-foot-genital syndrome DOID_0060739 [A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.]
Gadoidei NCBITaxon_1489845
Gadiformes NCBITaxon_8043
torsion dystonia 1 DOID_0060730 [A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.]
generalized dystonia DOID_0050835 [A dystonia that affects most or all of the body.]
congenital central hypoventilation syndrome DOID_0060731 [An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.]
Giardiinae NCBITaxon_68459
chromosome 9p deletion syndrome DOID_0060732 [A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.]
junctional epidermolysis bullosa with pyloric atresia DOID_0060733 [A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.]
epidermolysis bullosa simplex Dowling-Meara type DOID_0060735 [An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.]
epidermolysis bullosa simplex Ogna type DOID_0060736 [An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.]
obsolete bovine anaplasmosis DOID_4350
ovarian embryonal carcinoma DOID_5681 [An embryonal carcinoma that is located_in the ovary.]
embryonal testis carcinoma DOID_5680 [An embryonal carcinoma that is located_in the testis.]
obsolete Complication of labor and/or delivery DOID_3020
ciliary body cancer DOID_4352
ciliary body disease DOID_4353 [An iris disease that is located_in the ciliary body.]