All terms in DOID

Label Id Description
Abnormal skeletal morphology HP_0011842
Fanconi anemia complementation group S DOID_0060979 [A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.]
Fanconi anemia DOID_13636 [A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.]
Epispadias HP_0000039
Displacement of the urethral meatus HP_0100627
earache SYMP_0000437
Abnormality of the male genitalia HP_0010461
Abnormal external genitalia HP_0000811
interchromosomal_translocation SO_0002060
chromosomal_translocation SO_1000044
toothache SYMP_0000438 [A pain that is characterized by a pain in, or about, a tooth or teeth.]
paresthesia SYMP_0000435 [A skin and integumentary tissue symptom that is characterized by a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root.]
tethered spinal cord syndrome DOID_1089
abnormal vaginal bleeding SYMP_0000436 [A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly.]
meningocele DOID_1088 [A spina bifida that is characterized by herniation of the meninges between the vertebrae.]
spina bifida DOID_0080016 [A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.]
interstitial lung disease 2 DOID_0060971 [An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.]
renal hypomagnesemia 7, with or without dilated cardiomyopathy DOID_0060972 [A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15.]
obsolete congenital chromosomal disease DOID_1086
WHIM syndrome 2 DOID_0060973 [An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35.]