All terms in DOID

Label Id Description
hereditary sensory and autonomic neuropathy type 2A DOID_0070155 [A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.]
hereditary sensory and autonomic neuropathy type 1A DOID_0070152 [A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.]
hereditary sensory and autonomic neuropathy type 8 DOID_0070153 [A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34.]
hereditary sensory and autonomic neuropathy type 2B DOID_0070150 [A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15.]
hereditary sensory and autonomic neuropathy type 6 DOID_0070151 [A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.]
Scarring HP_0100699
hereditary sensory neuropathy type 1E DOID_0070158 [A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13.]
hereditary sensory neuropathy X-linked DOID_0070159 [A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.]
hereditary sensory neuropathy type 1D DOID_0070156 [A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.]
hereditary sensory and autonomic neuropathy type 1C DOID_0070157 [A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.]
canis group NCBITaxon_106178
Ehrlichia NCBITaxon_943
major affective disorder 3 MIM_609633
phagocytophilum group NCBITaxon_106179
Anaplasma NCBITaxon_768
Meckel syndrome 7 DOID_0070121 [A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.]
Meckel syndrome DOID_0050778 [A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.]
hypomyelinating leukodystrophy 13 DOID_0060795 [A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.]
Meckel syndrome 8 DOID_0070122 [A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.]
hypomyelinating leukodystrophy 12 DOID_0060796 [A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.]