All terms in DOID

Label Id Description
Charcot-Marie-Tooth disease type 2 DOID_0050539 [A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.]
infantile-onset myofibrillar myopathy 12 with cardiomyopathy DOID_0051044 [A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23.]
primary autosomal recessive microcephaly 30 DOID_0051041 [A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13.]
autosomal dominant distal hereditary motor neuronopathy 15 DOID_0051042 [An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.]
congenital disorder of glycosylation type IIbb DOID_0051047 [A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14.]
congenital disorder of glycosylation type IIr DOID_0051048 [A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.]
myofibrillar myopathy 13 with rimmed vacuoles DOID_0051045 [A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.]
spondyloepimetaphyseal dysplasia, Li-Shao-Li type DOID_0051046 [A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23.]
primary autosomal recessive microcephaly 29 DOID_0051040 [A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22.]
obsolete metastatic tumor to the colon DOID_12189
splenic flexure cancer DOID_12191
descending colon cancer DOID_12190
congenital disorder of glycosylation type IIt DOID_0051049 [A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.]
primary autosomal recessive microcephaly 21 DOID_0051032 [A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13.]
primary autosomal recessive microcephaly 22 DOID_0051033 [A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25.]
Distal urethral duplication HP_0008706
punctate epithelial keratoconjunctivitis DOID_12197
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia DOID_0051030 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.]
superficial keratitis DOID_12196
primary autosomal recessive microcephaly 20 DOID_0051031 [A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.]