All terms in DOID

Label Id Description
spondyloepimetaphyseal dysplasia, Strudwick type DOID_0080028 [A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).]
epidermolytic hyperkeratosis 2 DOID_0081359 [An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21.]
autosomal recessive spinocerebellar ataxia 16 DOID_0080029 [An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.]
susceptibility to autosomal dominant parkinson disease 5 MIM_613643
obsolete Shwachman-Diamond type metaphyseal dysplasia DOID_0080023
congenital myopathy 22A DOID_0081354 [A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.]
Eosinophilia HP_0001880
Abnormal eosinophil count HP_0020064
obsolete Pyles dysplasia DOID_0080024
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.]
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.]
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.]
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.]
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
endometriosis of ovary DOID_11432 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.]