Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| cone-rod dystrophy 8 | DOID_0111014 | [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24.] |
| neurotic excoriation | DOID_9165 | |
| Wiskott-Aldrich syndrome | DOID_9169 | [A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).] |
| Joubert syndrome 5 | DOID_0111000 | [A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.] |
| Joubert syndrome 6 | DOID_0111001 | [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22.] |
| anatomical junction | UBERON_0007651 | |
| X-linked cone-rod dystrophy 1 | DOID_0111008 | [A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.] |
| cone-rod dystrophy 1 | DOID_0111009 | [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3.] |
| amebiasis | DOID_9181 | [A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.] |
| X-linked cone-rod dystrophy 2 | DOID_0111006 | [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27.] |
| obsolete amebic colitis | DOID_9180 | [An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon.] |
| X-linked cone-rod dystrophy 3 | DOID_0111007 | [A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.] |
| Joubert syndrome 9 | DOID_0111004 | [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.] |
| obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb | DOID_9186 | |
| cone-rod dystrophy 2 | DOID_0111005 | [A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.] |
| Joubert syndrome 7 | DOID_0111002 | [A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.] |
| obsolete sleep arousal disorder | DOID_9184 | |
| Joubert syndrome 8 | DOID_0111003 | [A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.] |
| saturated organic heterocyclic parent | CHEBI_36388 | |
| heterocyclic organic fundamental parent | CHEBI_35552 |