Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| TMEM199-CDG | MONDO_0014790 | |
| ear inflorescence | PO_0020136 | [A pistillate inflorescence (PO:0025598) in Zea species that is highly compacted and bears the ear spikelets (PO:0006320) on a lateral inflorescence axis (PO:0020122).] |
| pistillate inflorescence | PO_0025598 | [An inflorescence (PO:0009049) that includes as part only pistillate flowers (PO:0025599).] |
| columella root cap cell | PO_0020132 | [Cell that constitutes the central part of the root cap, arranged in longitudinal files.] |
| native plant cell | PO_0025606 | [A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment).] |
| colorectal cancer, susceptibility to, 1 | MONDO_0012132 | [Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.] |
| lateral root cap | PO_0020131 | [A portion of root parenchyma tissue that is part of a root cap and is parallel to the sides of a root axis.] |
| root cap | PO_0020123 | [A portion of root parenchyma (PO:0025095) tissue that is part of the root tip (PO:0000025) and covers the root apical meristem (PO:0020147).] |
| myofibrillar myopathy 2 | MONDO_0012130 | [Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.] |
| Luscan-Lumish syndrome | MONDO_0014791 | |
| bone marrow failure syndrome | MONDO_0000159 | |
| immunodeficiency 74, COVID-19-related, X-linked | MONDO_0026767 | |
| obsolete warfarin sensitivity, X-linked | MONDO_0026768 | |
| transposition of the great arteries | MONDO_0000153 | [A congenital cardiac defect in which two heart vessels are reversed (transposed).] |
| thiamine-responsive dysfunction syndrome | MONDO_0000152 | |
| disorder of thiamine metabolism and transport | MONDO_0017578 | |
| hereditary cryohydrocytosis with reduced stomatin | MONDO_0012143 | |
| orotidine | CHEBI_25722 | [A nucleoside formed by attaching orotic acid to a ribose ring via a beta-N(1)-glycosidic bond.] |
| orofacial cleft 6, susceptibility to | MONDO_0012141 | [Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.] |
| Huntington disease and related disorders | MONDO_0000167 | [A grouping for Huntington disease and similar diseases.] |