Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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 GJB2 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 RHBDF2 on chromosome 17q25.1.]
Chrysosporium	NCBITaxon_40411
Buschke-Ollendorff syndrome	DOID_0111536	[A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3.]
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.]
adhesions of uterus	DOID_13812	[A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.]
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 SCN9A on chromosome 2q24.3.]
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.]
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.]
multicentric carpotarsal osteolysis syndrome	DOID_0111534	[A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12.]
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.]
progressive osseous heteroplasia	DOID_0111535	[A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32.]
Charcot-Marie-Tooth disease recessive intermediate B	DOID_0110204	[A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.]
Charcot-Marie-Tooth disease recessive intermediate A	DOID_0110201	[A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.]
osteoglophonic dysplasia	DOID_0111532	[An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23.]
bronchial mucus gland adenoma	DOID_7030
glassy cell variant cervical adenosquamous carcinoma	DOID_8361	[A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.]
gnathodiaphyseal dysplasia	DOID_0111533	[An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in ANO5 on chromosome11p14.3.]