All terms in DOID

Label Id Description
spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID_0112305 [A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.]
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type DOID_0112304 [A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.]
spondylometaphyseal dysplasia with corneal dystrophy DOID_0112303 [A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.]
spondylometaphyseal dysplasia East African type DOID_0112302 [A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies.]
spondylometaphyseal dysplasia type A4 DOID_0112301 [A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.]
spondylometaphyseal dysplasia with cone-rod dystrophy DOID_0112300 [A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29.]
central precocious puberty 2 DOID_0112309 [A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2.]
central precocious puberty DOID_0112308 [An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.]
obsolete Galactorrhea associated with childbirth DOID_12092
obsolete vitamin A deficiency with corneal xerosis DOID_12091
trigeminal neuralgia DOID_12098
trigeminal nerve disease DOID_561
obsolete rat-bite fever DOID_12097
sodoku disease DOID_12096 [A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain.]
rocuronium CHEBI_8884
androstane CHEBI_35509
3alpha-hydroxy steroid CHEBI_36835
susceptibility to cutaneous malignant melanoma 5 MIM_613099
Abnormal middle ear morphology HP_0008609
alacrima, achalasia, and impaired intellectual development syndrome DOID_0112321 [A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.]