All terms in DOID

Label Id Description
obsolete disseminated neuroblastoma DOID_4173
blood group incompatibility DOID_4176
Rh isoimmunization DOID_4175
peroxisome biogenesis disorder 6A DOID_0080481 [A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.]
peroxisome biogenesis disorder 7A DOID_0080482 [A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.]
peroxisome biogenesis disorder 8A DOID_0080483 [A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.]
peroxisome biogenesis disorder 10A DOID_0080484 [A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24.]
Hyperhidrosis HP_0000975
peroxisome biogenesis disorder 5A DOID_0080480 [A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.]
ovarian dysgenesis 4 DOID_0080496 [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22.]
46 XX gonadal dysgenesis DOID_14450 [A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.]
ovarian dysgenesis 5 DOID_0080497 [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34.]
ovarian dysgenesis 6 DOID_0080498 [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15.]
ovarian dysgenesis 7 DOID_0080499 [A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.]
susceptibility to epidermodysplasia verruciformis 1 MIM_226400
pseudopseudohypoparathyroidism DOID_4183 [A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.]
articulation disorder DOID_4186 [A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.]
mutism DOID_4189 [A speech disorder that involves a complete inability to speak.]
echolalia DOID_4188 [A speech disorder that involves the automatic repetition of vocalizations made by another person.]
leukocyte adhesion deficiency 2 DOID_0080492 [A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.]