Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
anterior segment dysgenesis 7	MONDO_0010015	[Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.]
sclerocornea	MONDO_0019629	[A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.]
anterior segment dysgenesis	MONDO_0019503	[A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).]
autosomal recessive osteopetrosis 6	MONDO_0012679	[Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.]
craniometadiaphyseal dysplasia, wormian bone type	MONDO_0010014	[Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.]
sea-blue histiocyte syndrome	MONDO_0010017	[A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.]
autosomal recessive osteopetrosis 4	MONDO_0012676	[Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.]
Eyebrow duplication - syndactyly	Orphanet_3172
malignant soft tissue neoplasm	MONDO_0024637	[A malignant neoplasm arising exclusively from the soft tissues.]
autosomal recessive nonsyndromic hearing loss 63	MONDO_0012670	[Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.]
X-linked intellectual disability, Shashi type	Orphanet_85286
obsolete_sirenomelia	Orphanet_3169
obsolete_X-linked intellectual disability, Schimke type	Orphanet_85285
obsolete_Sillence syndrome	Orphanet_3168
obsolete_X-linked intellectual disability, Stocco dos Santos type	Orphanet_85288
obsolete_Siegler-Brewer-Carey syndrome	Orphanet_3167
X-linked intellectual disability, Siderius type	Orphanet_85287
obsolete_sialuria	Orphanet_3166
performance enhancing product use	EFO_0020916	[When a drug is administed to inhibit or enhance sporting performance.]
drug misuse	EFO_0011049	[Misuse of drugs. The use of a drug for a purpose not consistent with legal or medical guidelines. Can include accidental poisoning, drug misuse and overdose. It includes the use of a drug to satisfy dependence (see also 'Psychiatric Toxicity' term that includes substance-related disorders such as drug dependency).]