All terms in HP

Label Id Description
Hypothalamic hamartoma HP_0002444 [The presence of a hamartoma of the hypothalamus.]
Abnormal hypothalamus morphology HP_0012286 [Any structural anomaly of the hypothalamus.]
Cerebral hamartoma HP_0009731 [The presence of a hamartoma of the cerebrum.]
stomach primordium UBERON_0012172 [A primordium that has the potential to develop into a stomach.]
skin gland UBERON_0002419 [A gland that is part of a skin of body [Automatically generated definition].]
exocrine gland of integumental system UBERON_0019319 [An exocrine gland that is part of a integumental system.]
apocrine gland UBERON_0008974 [Any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk.]
acoustico-facial VII-VIII ganglion complex UBERON_0012175
obsolete Dysautonomia HP_0002459
Abnormal globus pallidus morphology HP_0002453 [An abnormality of the globus pallidus.]
Abnormal basal ganglia morphology HP_0002134 [Abnormality of the basal ganglia.]
Eye of the tiger anomaly of globus pallidus HP_0002454 [The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.]
Iron accumulation in brain HP_0012675 [An abnormal build up of iron (Fe) in brain tissue.]
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.]