Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Aplasia of the 1st metacarpal	HP_0010035	[Absent first metacarpal (long bone) of the hand.]
Partial absence of thumb	HP_0009659	[The absence of a phalangeal segment of a thumb.]
Small basal ganglia	HP_0012697	[Decreased size of the basal ganglia.]
Focal T2 hyperintense thalamic lesion	HP_0012692	[A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.]
Osteolytic defects of the 1st metacarpal	HP_0010030	[Dissolution or degeneration of bone tissue of the 1st metacarpal.]
Metacarpal osteolysis	HP_0001504
Focal T2 hypointense thalamic lesion	HP_0012691	[A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.]
T2 hypointense thalamus	HP_0012690	[A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.]
Scapular muscle atrophy	HP_0009060	[Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.]
Infantile axial hypotonia	HP_0009062	[Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.]
Infantile muscular hypotonia	HP_0008947	[Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.]
Muscular hypotonia of the trunk	HP_0008936	[Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.]
Progressive distal muscle weakness	HP_0009063	[Progressively reduced strength of the distal musculature.]
erythroid transcription factor	PR_000007857	[A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof.]
Generalized lipodystrophy	HP_0009064	[Generalized degenerative changes of the fat tissue.]
endothelial transcription factor GATA-2	PR_000007858	[A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof.]
Generalized limb muscle atrophy	HP_0009055	[Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.]
Generalized amyotrophy	HP_0003700	[Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.]
Short 4th metacarpal	HP_0010044	[Short fourth metacarpal bone.]
Aplasia/Hypoplasia of the 4th metacarpal	HP_0010042	[Aplasia or Hypoplasia affecting the 4th metacarpal.]