Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Reduced bone-marrow pro-B cell count	HP_0020048	[A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.]
Macular dots	HP_0032028	[Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.]
Yellow/white lesions of the macula	HP_0030500
Profound static encephalopathy	HP_0007069
Nonprogressive encephalopathy	HP_0007030
Inferior vermis hypoplasia	HP_0007068	[Underdevelopment of the inferior portion of the vermis of cerebellum.]
Cerebellar vermis hypoplasia	HP_0001320	[Underdevelopment of the vermis of cerebellum.]
Distal peripheral sensory neuropathy	HP_0007067	[Peripheral sensory neuropathy affecting primarily distal sensation.]
Proximal limb muscle stiffness	HP_0007066
Muscle stiffness	HP_0003552	[A condition in which muscles cannot be moved quickly without accompanying pain or spasm.]
Disorganization of the anterior cerebellar vermis	HP_0007065
Progressive language deterioration	HP_0007064	[Progressive loss of previously present language abilities.]
Thick corpus callosum	HP_0007074	[Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.]
Abnormal corpus callosum morphology	HP_0001273	[Abnormality of the corpus callosum.]
dwarf-like	PATO_0000969	[A size quality inhering in a bearer by virtue of the bearer's being abnormally small.]
Retinal dots	HP_0032027	[Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.]
undulate	PATO_0000967	[A shape quality inhering in a bearer by virtue of the bearer's having a sinuate margin and rippled surface.]
Anetoderma	HP_0032026	[Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.]
transparent	PATO_0000964	[A optical quality inhering in a bearer by virtue of the bearer's lacking opacity.]
opacity	PATO_0000957	[An optical quality which obtains by virtue of the ability of the bearer to absorb visible light.]