All terms in DOID

Label Id Description
congenital myopathy 22B DOID_0081355 [A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.]
obsolete Pyles dysplasia DOID_0080024
Abnormal leukocyte morphology HP_0001881
Abnormal cellular immune system morphology HP_0010987
spinal muscular atrophy, Jokela type DOID_0081356 [A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.]
otospondylomegaepiphyseal dysplasia, autosomal recessive DOID_0080026 [An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.]
isolated mitochondrial myopathy DOID_0081357 [A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.]
Positional foot deformity HP_0005656
obsolete recurrent cholesteatoma post-mastoidectomy DOID_11436
obsolete peritonsillar abscess DOID_12765 [A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.]
anterior foramen magnum meningioma DOID_6381
obsolete classic Kaposi's sarcoma DOID_12763 [A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet.]
endometriosis of ovary DOID_11432 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.]
Ehrlich tumor carcinoma DOID_5050
endometriosis of rectovaginal septum and vagina DOID_11431 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina.]
endometriosis in scar of skin DOID_11430 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin.]
malignant granular cell esophageal tumor DOID_5040
vulvar granular cell tumor DOID_5043 [A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei.]
malignant granular cell myoblastoma DOID_5042
cardiac granular cell neoplasm DOID_5044