Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Labial hypertrophy	HP_0000065
Hypoplastic female external genitalia	HP_0012815	[Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).]
Urethral atresia, female	HP_0000067	[Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.]
Urinary tract atresia	HP_0000809	[Congenital absence of the normal opening of a structure of the urinary tract.]
Ambiguous genitalia, female	HP_0000061	[Ambiguous genitalia in an individual with XX genetic gender.]
Fused labia minora	HP_0000063	[Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.]
Abnormality of the labia minora	HP_0012880	[An anomaly of the labia minora, the folds of skin between the outer labia.]
Hypoplastic labia minora	HP_0000064
Clitoral hypoplasia	HP_0000060	[Developmental hypoplasia of the clitoris.]
Decreased size of the clitoris	HP_0040254
Aplasia/Hypoplasia of the clitoris	HP_0040255
Hemeralopia	HP_0012047	[A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.]
Areflexia of upper limbs	HP_0012046	[Inability to elicit tendon reflexes in the upper limbs.]
Retinal flecks	HP_0012045	[Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.]
Yellow/white lesions of the retina	HP_0030506
Seesaw nystagmus	HP_0012044	[Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.]
Pendular nystagmus	HP_0012043	[Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.]
Laryngeal dystonia	HP_0012049	[A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.]
Dysphonia	HP_0001618	[An impairment in the ability to produce voice sounds.]
Oromandibular dystonia	HP_0012048	[A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.]