Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete eye adnexa disease	DOID_0050815	[An eye and adnexa disease that is located_in the adnexa of the eye.]
transcobalamin II deficiency	DOID_0050818	[A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.]
Stargardt disease	DOID_0050817	[An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.]
Matthew-Wood syndrome	DOID_0050819	[A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.]
biotin deficiency	DOID_0050810	[A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.]
Vibrio	NCBITaxon_662
Vibrionaceae	NCBITaxon_641
spondyloepimetaphyseal dysplasia, Pakistani type	DOID_0050812	[A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.]
congenital adrenal hyperplasia	DOID_0050811	[A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.]
temtamy preaxial brachydactyly syndrome	DOID_0050814	[A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.]
spondyloepiphyseal dysplasia with congenital joint dislocations	DOID_0050813	[A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.]
glioblastoma mesenchymal subtype	DOID_0050805	[A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.]
glioblastoma proneural subtype	DOID_0050804	[A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.]
Kahrizi syndrome	DOID_0050807	[A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.]
glioblastoma neural subtype	DOID_0050806	[A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.]
mucopolysaccharidosis IX	DOID_0050809	[A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.]
androgenic alopecia	DOID_0050801	[An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.]
creatine transporter deficiency	DOID_0050800	[A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.]
glioblastoma classical subtype	DOID_0050803	[A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.]
Ehlers-Danlos syndrome progeroid type	DOID_0050802	[An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.]