All terms in HP

Label Id Description
Limb dystonia HP_0002451 [A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.]
Abnormal neuron morphology HP_0012757 [A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.]
V(D)J recombination-activating protein 1 PR_000003457 [A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof.]
Spastic dysarthria HP_0002464 [A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.]
Dysarthria HP_0001260 [Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.]
Language impairment HP_0002463 [Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.]
Abnormal communication HP_0034434 [Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.]
Poor speech HP_0002465
Cerebellar dentate nucleus calcification HP_0002461 [Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.]
Abnormal dentate nucleus morphology HP_0100321 [An abnormality of the dentate nucleus.]
Cerebellar calcifications HP_0007352
phrenic vein UBERON_0012193 [The veins that run parallel to the phrenic arteries which include the two superior and two inferior phrenic veins.]
V(D)J recombination-activating protein 2 PR_000003460 [A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof.]
intercostal vein UBERON_0012197 [The intercostal veins are a group of veins which drain the area between the ribs.]
cardiopharyngeal field UBERON_0036146 [An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles.]
anlage UBERON_0007688 [Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue.]
intercostal space UBERON_0012198 [A space in the rib cage between two successive ribs.]
limb segment UBERON_0002529 [A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles.]
posterior region of body UBERON_0000154
anterior region of body UBERON_0000153