All terms in DOID

Label Id Description
digit UBERON_0002544
hyperekplexia 2 DOID_0060697 [A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.]
hyperekplexia 3 DOID_0060698 [A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.]
familial hypocalciuric hypercalcemia DOID_0060699 [A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.]
hypercalcemia DOID_12678
thumb UBERON_0001463
manual digit 1 or 5 UBERON_0019231
digit 1 UBERON_0006048
hip UBERON_0001464
autosomal dominant auditory neuropathy 1 DOID_0060690 [An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.]
autosomal dominant nonsyndromic deafness DOID_0050564 [A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.]
platelet-type bleeding disorder 16 DOID_0060691 [A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.]
blood platelet disease DOID_2218 [A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.]
platelet-type bleeding disorder 8 DOID_0060692 [A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.]
Brunner Syndrome DOID_0060693 [An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.]
Cayman type cerebellar ataxia DOID_0060694 [An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.]
nervous system disease DOID_863 [A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.]
Abnormal cerebral subcortex morphology HP_0010993
Spinocerebellar tract degeneration HP_0002503
Abnormality of the spinocerebellar tracts HP_0003133