Terminology Service for NFDI4Health
All terms in HP
| Label | Id | Description |
|---|---|---|
| shoulder joint primordium | UBERON_0006292 | |
| mesenchyme of shoulder | UBERON_0003322 | [Mesenchyme that is part of a developing shoulder [Automatically generated definition].] |
| glenohumeral joint | UBERON_0001470 | [The glenohumeral joint, commonly known as the shoulder joint, is a multiaxial synovial ball and socket joint and involves articulation between the glenoid fossa of the scapula (shoulder blade) and the head of the humerus (upper arm bone). [WP,unvetted].] |
| Duplication of the distal phalanx of the 5th finger | HP_0009988 | [Partial or complete duplication of the distal phalanx of little finger.] |
| Duplication of the middle phalanx of the 5th finger | HP_0009989 | [Partial or complete duplication of the fifth middle phalanx of hand.] |
| scapula cartilage element | UBERON_0006290 | [A scapula endochondral element that is composed primarily of cartilage tissue.] |
| Recurrent encephalopathy | HP_0007335 | [Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.] |
| Abnormal cellular immune system morphology | HP_0010987 | [An abnormality of the morphology or counts of the cells that make up the immune system.] |
| Generalized tonic-clonic seizures with focal onset | HP_0007334 | [Bilateral convulsive seizures are focal seizure with secondary bilateral motor phenomena, not primary generalized seizures.] |
| Abnormality of the extrinsic pathway | HP_0010988 | [An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.] |
| C-C chemokine receptor type 7, signal peptide removed form (human) | PR_000046603 | [A C-C chemokine receptor type 7 (human) that has had the signal peptide removed. UniProtKB:P32248, 25-378.] |
| C-C chemokine receptor type 7 (human) | PR_P32248 | [A C-C chemokine receptor type 7 that is encoded in the genome of human.] |
| Hypoplasia of the frontal lobes | HP_0007333 | [Underdevelopment of the frontal lobe of the cerebrum.] |
| Gonosomal inheritance | HP_0010985 | [A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.] |
| Hemifacial seizures | HP_0007332 | [Focal clonic seizures affecting one side of the face.] |
| Frontal encephalocele | HP_0007330 | |
| Duplication of the proximal phalanx of the 5th finger | HP_0009990 | [Partial or complete duplication of the fifth proximal phalanx of hand.] |
| dendritic cell differentiation | GO_0097028 | [The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.] |
| Complete duplication of the distal phalanx of the 5th finger | HP_0009991 | [Complete duplication of the distal phalanx of little finger.] |
| Complete duplication of the middle phalanx of the 5th finger | HP_0009992 | [Complete duplication of the fifth middle phalanx of hand.] |