Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Ancylostomatinae	NCBITaxon_53469
congenital muscular dystrophy-dystroglycanopathy type A2	DOID_0111240	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.]
periderm	UBERON_0003055
congenital muscular dystrophy-dystroglycanopathy type A5	DOID_0111241	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.]
cerebrocostomandibular syndrome	DOID_0111248	[A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.]
uveal coloboma-cleft lip and palate-intellectual disability	DOID_0111249	[A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.]
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	DOID_0111246	[A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.]
hypertension and brachydactyly syndrome	DOID_0111247	[A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.]
palmoplantar keratoderma and congenital alopecia 1	DOID_0111244	[An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.]
palmoplantar keratoderma and congenital alopecia 2	DOID_0111245	[An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.]
hindlimb endochondral element	UBERON_0015022
phalanx endochondral element	UBERON_0015023
susceptibility to colorectal cancer 1	OMIM_608812
obsolete Microsporum fulvum tinea capitis	DOID_0050111	[An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum.]
obsolete Trichophyton schoenleinii tinea capitis	DOID_0050110	[A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss.]
obsolete Trichophyton equinum tinea capitis	DOID_0050113	[An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.]
obsolete Trichophyton megninii tinea capitis	DOID_0050112	[An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.]
obsolete Trichophyton yaoundei tinea capitis	DOID_0050115	[An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions.]
tinea imbricata	DOID_0050116	[A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.]
obsolete West Nile virus neurological syndrome	DOID_0050119	[A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder.]