All terms in MONDO_CLINGEN

Label Id Description
breast-ovarian cancer, familial, susceptibility to, 1 MONDO_0011450 [Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.]
breast-ovarian cancer, familial, susceptibility to MONDO_0100526
complement deficiency MONDO_0003832 [A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.]
inborn error of immunity MONDO_0003778 [A disorder in which the immune system is unable to mount an adequate immune response.]
Dravet syndrome MONDO_0100135 [Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.]
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.]
hemoglobinopathy MONDO_0044348
erythrocyte disorder MONDO_0044347 [A disease or disorder that involves the erythrocyte.]
hematologic disorder MONDO_0005570 [A disease involving the hematopoietic system.]
premature aging syndrome MONDO_0019303 [Changes in the organism associated with senescence, occurring at an accelerated rate.]
cerebellar ataxia, intellectual disability, and dysequilibrium MONDO_0009133 [A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.]
autosomal recessive congenital cerebellar ataxia MONDO_0020043
Pendred syndrome MONDO_0010134 [Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.]
congenital hypothyroidism MONDO_0018612 [A thyroid hormone deficiency present from birth.]
acute intermittent porphyria MONDO_0008294 [Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.]
inherited porphyria MONDO_0019142 [Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.]
hepatic porphyria MONDO_0002520 [A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.]
Silverman-Handmaker type dyssegmental dysplasia MONDO_0009140 [Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.]
spondyloepiphyseal dysplasia MONDO_0016761 [An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.]
qualitative or quantitative defects of perlecan MONDO_0016151