All terms in DOID

Label Id Description
infundibulocystic basal cell carcinoma DOID_4279 [A variant of basal cell carcinoma characterized by follicular differentiation.]
3-methylcrotonyl-CoA carboxylase 2 deficiency DOID_0080580 [A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.]
3-methylcrotonyl-CoA carboxylase deficiency DOID_0050710 [An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.]
scrotum basal cell carcinoma DOID_4278
hyperekplexia 4 DOID_0080581 [A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.]
hypotrichosis 14 DOID_0080582 [A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.]
Wolfram syndrome, mitochondrial form DOID_0080583 [A Wolfram syndrome that has_material_basis_in mutation in mtDNA.]
Coronavirus infectious disease DOID_0080599 [A viral infectious disease that has_material_basis_in Coronavirus.]
mesenchymal cell CL_0008019
motile cell CL_0000219
autosomal recessive hyper-IgE syndrome 3 with recurrent infections DOID_0080595 [A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11.]
hyper IgE recurrent infection syndrome 4 DOID_0080596 [A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.]
Kleefstra syndrome DOID_0080597 [A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.]
Kleefstra syndrome 2 DOID_0080598 [A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.]
fibroepithelial basal cell carcinoma DOID_4291
adamantinoid basal cell epithelioma DOID_4290
pigmented basal cell carcinoma DOID_4282 [A basal cell carcinoma characterized by brown or black pigmentation.]
metatypical basal cell carcinoma DOID_4281 [A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma.]
Abnormal thyroid morphology HP_0011772
anal margin basal cell carcinoma DOID_4283 [A basal cell carcinoma that is located_in the anal margin.]