Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| peroxisome biogenesis disorder 5A | DOID_0080480 | [A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.] |
| Bruising susceptibility | HP_0000978 | [An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.] |
| ovarian dysgenesis 4 | DOID_0080496 | [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22.] |
| 46 XX gonadal dysgenesis | DOID_14450 | [A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.] |
| ovarian dysgenesis 5 | DOID_0080497 | [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34.] |
| ovarian dysgenesis 6 | DOID_0080498 | [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15.] |
| ovarian dysgenesis 7 | DOID_0080499 | [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.] |
| pseudopseudohypoparathyroidism | DOID_4183 | |
| articulation disorder | DOID_4186 | [A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.] |
| mutism | DOID_4189 | [A speech disorder that involves a complete inability to speak.] |
| echolalia | DOID_4188 | [A speech disorder that involves the automatic repetition of vocalizations made by another person.] |
| leukocyte adhesion deficiency 2 | DOID_0080492 | [A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.] |
| leukocyte adhesion deficiency | DOID_6612 | [A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.] |
| ovarian dysgenesis 1 | DOID_0080493 | [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.] |
| ovarian dysgenesis 2 | DOID_0080494 | [A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11.] |
| ovarian dysgenesis 3 | DOID_0080495 | [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.] |
| mucolipidosis type IV | DOID_0080490 | [A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.] |
| cerebral cavernous malformation 1 | DOID_0080491 | [A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.] |
| early infantile epileptic encephalopathy 2 | DOID_0080467 | [An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.] |
| hemic and immune system symptom | SYMP_0017795 |