All terms in MONDO_CLINGEN

Label Id Description
lysosomal storage disease MONDO_0002561 [A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.]
focal segmental glomerulosclerosis 9 MONDO_0014539 [Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.]
inherited focal segmental glomerulosclerosis MONDO_0005363 [An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.]
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO_0035474 [A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.]
primary lymphedema MONDO_0019175 [A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.]
rhabdoid tumor predisposition syndrome 2 MONDO_0013224 [Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.]
atypical teratoid rhabdoid tumor MONDO_0020560 [Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.]
familial rhabdoid tumor MONDO_0016473 [A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.]
oculocutaneous albinism MONDO_0018910 [Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.]
hypopigmentation of the skin MONDO_0019290 [A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.]
disorder of melanin metabolism MONDO_0018134
congenital plasminogen activator inhibitor type 1 deficiency MONDO_0013227 [Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.]
disorder of glycolysis MONDO_0017688
monogenic diabetes MONDO_0015967 [Diabetes mellitus that is caused by mutations in a single gene.]
Waardenburg syndrome type 4A MONDO_0010192 [A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.]
Weaver syndrome MONDO_0010193 [Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.]
overgrowth syndrome MONDO_0019716 [A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.]
skeletal dysplasia MONDO_0018230 [Any Mendelian diseases that affects growth and development of the skeleton.]
Werner syndrome MONDO_0010196 [A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.]
progeroid syndrome MONDO_0015333 [A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.]