All terms in DOID

Label Id Description
achalasia DOID_9164 [An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.]
brachydactyly type E1 DOID_0110972 [A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.]
brachydactyly type C DOID_0110970 [A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.]
obsolete Sezary's disease involving intrapelvic lymph nodes DOID_9161
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes DOID_9157
mucocutaneous leishmaniasis DOID_9155 [A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.]
Sugarman brachydactyly DOID_0110979 [A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.]
obsolete facial neoplasm DOID_448
brachydactyly type A1C DOID_0110977 [A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.]
gas gangrene DOID_9159 [A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.]
brachydactyly type A1D DOID_0110978 [A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.]
obsolete Sezary's disease involving intra-abdominal lymph nodes DOID_9158
pain agnosia DOID_0060145 [An agnosia that is a loss of the ability to perceive and process pain.]
mirror agnosia DOID_0060144 [An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.]
integrative agnosia DOID_0060143 [An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.]
form agnosia DOID_0060142 [An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.]
finger agnosia DOID_0060141 [An agnosia that is a loss of the ability to distinguish the fingers on the hand.]
cortical deafness DOID_0060140 [An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.]
Renpenning syndrome DOID_0060179 [An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.]
Abnormal size of the clitoris HP_0040252