All terms in MONDO_RARE

Label Id Description
epidermal disease MONDO_0019268 [A skin disease that involves the epidermis.]
robinow syndrome, autosomal recessive 2 MONDO_0032800
Robinow syndrome MONDO_0019978 [Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.]
palmoplantar keratoderma-deafness syndrome MONDO_0007852 [Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.]
diaphragmitis MONDO_0020830
inflammatory disease MONDO_0021166 [A disease involving a pathogenic inflammatory response in the anatomical structure.]
diaphragm disorder MONDO_0005728 [A disease involving the diaphragm.]
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO_0007853
autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO_0007850 [Autosomal dominant form of KID syndrome.]
KID syndrome MONDO_0018781 [Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.]
keratoconus 1 MONDO_0007851 [Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.]
keratoconus MONDO_0015486 [A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.]
developmental and epileptic encephalopathy, 77 MONDO_0032808
disorder of GPI anchor biosynthesis MONDO_0024321 [A disease that has its basis in the disruption of GPI anchor biosynthetic process.]
inherited lipid metabolism disorder MONDO_0002525 [An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.]
developmental and epileptic encephalopathy MONDO_0100062 [A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.]
developmental anomaly of metabolic origin MONDO_0015327
multiple congenital anomalies-hypotonia-seizures syndrome MONDO_0100247
congenital disorder of glycosylation MONDO_0015286 [Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.]
isolated micropenis MONDO_0019849