All terms in DOID

Label Id Description
obsolete metastatic non-cutaneous melanoma DOID_8387
familial combined hyperlipidemia DOID_13809
obsolete anaplastic small cell thyroid carcinoma DOID_7053
lymphedema-distichiasis syndrome DOID_0111509 [A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.]
multiple skull base meningioma DOID_7054
Lenz-Majewski hyperostotic dwarfism DOID_0111507 [A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.]
Torrance type platyspondylic dysplasia DOID_0111508 [An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.]
obsolete mixed embryonal carcinoma and seminoma of the testis DOID_8388
palmoplantar keratoderma-deafness syndrome DOID_0111505 [A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.]
lumbar plexus neoplasm DOID_8389
Insthoviricetes NCBITaxon_2497577
palmoplantar keratoderma-esophageal carcinoma syndrome DOID_0111506 [A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.]
Charcot-Marie-Tooth disease dominant intermediate E DOID_0110205 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.]
Buschke-Ollendorff syndrome DOID_0111536 [A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.]
adhesions of uterus DOID_13812 [A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.]
Charcot-Marie-Tooth disease dominant intermediate F DOID_0110206 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.]
paroxysmal extreme pain disorder DOID_0111537 [An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.]
chronic subinvolution of uterus DOID_13811 [A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy.]
Charcot-Marie-Tooth disease recessive intermediate D DOID_0110203 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.]
multicentric carpotarsal osteolysis syndrome DOID_0111534 [A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.]