All terms in MONDO_CLINGEN

Label Id Description
dicarboxylic aminoaciduria MONDO_0009110 [Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.]
inborn disorder of amino acid transport MONDO_0019216
Tay-Sachs disease MONDO_0010100 [GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.]
eye degenerative disorder MONDO_0004884 [A neurodegenerative disease that involves the eye.]
hereditary peripheral neuropathy MONDO_0020127 [An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.]
GM2 gangliosidosis MONDO_0017720 [A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.]
cerebral lipidosis with dementia MONDO_0020143
dyskeratosis congenita, X-linked MONDO_0010584 [X-linked form of dyskeratosis congenita.]
X-linked disease MONDO_0000425 [X-linked form of disease.]
DKC1-related disorder MONDO_0100152 [Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.]
metachromatic leukodystrophy due to saposin B deficiency MONDO_0009590
PSAP-related sphingolipidosis MONDO_0100517 [A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.]
metachromatic leukodystrophy MONDO_0018868 [A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.]
Aarskog-Scott syndrome, X-linked MONDO_0010589 [Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.]
faciodigitogenital syndrome MONDO_0021005 [A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.]
FG syndrome MONDO_0002010 [FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.]
RIDDLE syndrome MONDO_0012764 [An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.]
autosomal recessive cerebellar ataxia MONDO_0015244 [Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.]
microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO_0011435
autosomal recessive primary microcephaly MONDO_0016660 [Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.]