All terms in MONDO_RARE

Label Id Description
spermatogenic failure 41 MONDO_0032863
non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO_0018576
hereditary peripheral neuropathy MONDO_0020127 [An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.]
mitochondrial oxidative phosphorylation disorder MONDO_0016387
NDUFS1 7707
intralobar congenital pulmonary sequestration MONDO_0017245
congenital pulmonary sequestration MONDO_0017843 [A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.]
extralobar congenital pulmonary sequestration MONDO_0017246
communicating congenital bronchopulmonary-foregut malformation MONDO_0017247
hydrocephalus, congenital communicating, 1 MONDO_0032862
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO_0018577
NDUFS2 7708
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO_0018572
spinal muscular atrophy, distal, autosomal recessive, 6 MONDO_0859279
neuronopathy, distal hereditary motor, autosomal recessive MONDO_0015363 [Autosomal recessive form of distal hereditary motor neuropathy.]
UROC1 26444
intellectual developmental disorder, autosomal recessive 72 MONDO_0032860
contractures-developmental delay-Pierre Robin syndrome MONDO_0018571
partial deletion of the long arm of chromosome 5 MONDO_0016904
cutaneous collagenous vasculopathy MONDO_0017242 [Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.]