All terms in DOID

Label Id Description
lower urinary tract UBERON_0001556
organ system subdivision UBERON_0011216
autosomal dominant Robinow syndrome 2 DOID_0060765 [A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.]
autosomal dominant Robinow syndrome 1 DOID_0060766 [A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.]
autosomal dominant Robinow syndrome 3 DOID_0060767 [A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.]
Smith-Magenis syndrome DOID_0060768 [A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy DOID_0060769 [A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.]
cellular schwannoma DOID_3196 [A neurilemmoma with a predominantly cellular growth but no Verocay bodies.]
schwannoma of twelfth cranial nerve DOID_3197 [A neurilemmoma that is located_in the 12th cranial nerve.]
hypoglossal nerve disease DOID_13814 [A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).]
hypoglossal nerve neoplasm DOID_3198
cranial nerve malignant neoplasm DOID_2815 [A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.]
immunodeficiency with hyper-IgM type 4 DOID_0060760 [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.]
C-P angle neurinoma DOID_3199
familial chronic myelocytic leukemia-like syndrome DOID_0060761 [A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).]
chronic myeloid leukemia DOID_8552 [A myeloid leukemia that is characterized by over production of white blood cells.]
isolated microphthalmia 4 DOID_0060836 [An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.]
isolated microphthalmia DOID_0080637 [A microphthalmia that occurs by itself.]
isolated microphthalmia 5 DOID_0060837 [An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.]
isolated microphthalmia 7 DOID_0060838 [An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.]