All terms in DOID

Label Id Description
autosomal dominant dyskeratosis congenita 2 DOID_0070016 [A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.]
Seckel syndrome 2 DOID_0070013 [A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.]
autosomal dominant dyskeratosis congenita 1 DOID_0070014 [A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.]
knee UBERON_0001465
lower limb segment UBERON_0008784
hyperekplexia 1 DOID_0060696 [A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.]
hyperekplexia DOID_0060695 [A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.]
toe UBERON_0001466
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.]