Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Muscular hypertrophy - hepatomegaly - polyhydramnios	Orphanet_324416
Cerebral white matter atrophy	HP_0012762	[The presence of atrophy (wasting) of the cerebral white matter.]
piperidin-2-one	CHEBI_77761	[A delta-lactam that is piperidine which is substituted by an oxo group at position 2.]
Hand muscle atrophy	HP_0009130	[Muscular atrophy involving the muscles of the hand.]
Skeletal muscle atrophy	HP_0003202	[The presence of skeletal muscular atrophy (which is also known as amyotrophy).]
obsolete_juvenile leaf	BTO_0003147	[Distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. The first juvenile leaves are e.g. the embryonic leaves found in the grass kernel (caryopsis).]
Abnormal adipose tissue morphology	HP_0009124	[An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.]
childhood precursor T-lymphoblastic lymphoma/leukemia	MONDO_0004403	[A T lymphoblastic leukemia/lymphoma that occurs during childhood.]
hydroxyzine	CHEBI_5818
obsolete_osteogenesis imperfecta type 1	Orphanet_216796
Inflexible adherence to routines or rituals	HP_0000732
permanent congenital hypothyroidism	MONDO_0016408	[Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.]
congenital hypothyroidism	MONDO_0018612	[A thyroid hormone deficiency present from birth.]
Abnormality of the gastrointestinal tract	HP_0011024	[An abnormality of the gastrointestinal tract.]
supraglottis neoplasm	MONDO_0004427	[A benign or malignant neoplasm that affects the supraglottic area of the larynx.]
Irritability	HP_0000737	[A proneness to anger, i.e., a condition of being easily bothered or annoyed.]
Hallucinations	HP_0000738	[Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.]
Motor stereotypy	HP_0000733	[A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.]
Impaired social interactions	HP_0000735	[Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.]
Short attention span	HP_0000736	[Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.]