All terms in DOID

Label Id Description
narcissistic personality disorder DOID_2745 [A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.]
hereditary spastic paraplegia 29 DOID_0110780 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1.]
obsolete Verma-Naumoff syndrome DOID_0050551
Bloom syndrome DOID_2717 [A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.]
obsolete Majewski syndrome DOID_0050550
hemopneumothorax DOID_2718 [A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.]
proteasome-associated autoinflammatory syndrome 1 DOID_0050553 [A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21.]
hereditary spastic paraplegia 37 DOID_0110788 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3.]
congenital muscular dystrophy with rapid progression DOID_0061202 [A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21.]
hereditary spastic paraplegia 38 DOID_0110789 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15.]
maple syrup urine disease type IA DOID_0061203 [A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13.]
susceptibility to idiopathic generalized epilepsy 16 MIM_618596
hereditary spastic paraplegia 35 DOID_0110786 [A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.]
dihydrolipoamide dehydrogenase deficiency DOID_0061204 [A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31.]
hereditary spastic paraplegia 36 DOID_0110787 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24.]
mild variant of maple syrup urine disease DOID_0061205 [A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22.]
hereditary spastic paraplegia 33 DOID_0110784 [A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.]
maple syrup urine disease type IB DOID_0061206 [A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14.]
hereditary spastic paraplegia 34 DOID_0110785 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25.]
maple syrup urine disease type II DOID_0061207 [A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21.]