Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
lethal restrictive dermopathy	DOID_0060762	[A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.]
X-linked juvenile retinoschisis 1	DOID_0060763	[A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.]
retinoschisis	DOID_8465
autosomal recessive Robinow syndrome	DOID_0060764	[A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.]
Robinow syndrome	DOID_0060254	[A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.]
lower urinary tract	UBERON_0001556
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 chromosome deletion syndrome 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
hypoglossal nerve neoplasm	DOID_3198
cranial nerve neoplasm	DOID_338	[A central nervous system cancer 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.]