All terms in DOID

Label Id Description
mitochondrial DNA depletion syndrome 13 DOID_0080131 [A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.]
Sengers syndrome DOID_0080132 [A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.]
ring staphyloma DOID_11594
scleral staphyloma DOID_11595
Peroxisome biogenesis disorder 6B DOID_0081435 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36.]
bladder lateral wall cancer DOID_11593
urinary bladder cancer DOID_11054 [An urinary system cancer that results_in malignant growth located_in the urinary bladder.]
obsolete Mumps virus hepatitis DOID_10263 [A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.]
microcephaly and chorioretinopathy 1 DOID_0080105 [A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.]
Peroxisome biogenesis disorder 7B DOID_0081436 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21.]
microcephaly and chorioretinopathy 2 DOID_0080106 [A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.]
Peroxisome biogenesis disorder 8B DOID_0081437 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.]
otorrhea DOID_10261 [An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.]
auditory system disease DOID_2742 [A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.]
Peroxisome biogenesis disorder 9B DOID_0081438 [A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.]
microcephaly and chorioretinopathy 3 DOID_0080107 [A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.]
obsolete Batten Turner congenital myopathy DOID_0080100 [A myopathy that is characterized by the lack of muscle tone or floppiness at birth.]
microcephaly, short stature, and limb abnormalities DOID_0081431 [An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death.]
susceptibility to multiple sclerosis 5 MIM_614810
microcephaly-micromelia syndrome DOID_0081432 [A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder.]