All terms in DOID

Label Id Description
distal myopathy DOID_11720 [A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.]
Miyoshi muscular dystrophy 1 DOID_0070199 [A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.]
infantile-onset distal myopathy DOID_0070196 [A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development.]
distal myopathy 1 DOID_0070197 [A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2.]
autosomal recessive chronic granulomatous disease 3 DOID_0070194 [A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.]
X-linked chronic granulomatous disease DOID_0070195 [A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4.]
autosomal recessive chronic granulomatous disease 1 DOID_0070192 [A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.]
Coltivirus dermacentoris NCBITaxon_3428066
Coltivirus NCBITaxon_10911
autosomal recessive chronic granulomatous disease 4 DOID_0070193 [A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.]
Paracoccidioides brasiliensis NCBITaxon_121759
Paracoccidioides NCBITaxon_38946
Lacazia loboi NCBITaxon_121752
spermatogenic failure 18 DOID_0070165 [A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.]
spermatogenic failure 20 DOID_0070166 [A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13.]
spermatogenic failure 21 DOID_0070163 [A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22.]
spermatogenic failure 2 DOID_0070164 [A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31.]
hereditary sensory and autonomic neuropathy type 2 DOID_0070161 [A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.]
hereditary sensory neuropathy DOID_0050548 [A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.]
hereditary sensory and autonomic neuropathy type 1 DOID_0070162 [A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.]