Disease Index
9,486 diseasescongenital multicore myopathy with external ophthalmoplegia
human disease
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
congenital muscular dystrophy
human disease
congenital muscular dystrophy 1B
congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has material basis in variation in the chromosome region 1q42
MeSH: C565748
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy characterized by autosomal recessive inheritance that has material basis in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13
MeSH: C567709
congenital muscular dystrophy type 1C
human disease
congenital muscular dystrophy with cerebellar involvement
human disease
congenital muscular dystrophy with hyperlaxity
congenital muscular dystrophy with intellectual disability
human disease
congenital muscular dystrophy without intellectual disability
human disease
congenital muscular dystrophy-dystroglycanopathy type A
muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
medical condition
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
human disease
congenital myasthenic syndrome
Human disease
MeSH: D020294
congenital myasthenic syndrome 5
human disease
congenital myasthenic syndromes with glycosylation defect
human disease
congenital myopathy
human disease
ICD: G71.2
congenital myopathy with cores
human disease
congenital myopathy with excess of thin filaments
human disease
MeSH: C579880
congenital myopathy with myasthenic-like onset
congenital myopathy, Paradas type
Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development
congenital narrowing of cervical spinal canal
human disease
congenital nasal pyriform aperture stenosis with holoprosencephaly
human disease
congenital nemaline myopathy
human disease
congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
congenital neuronal ceroid lipofuscinosis
Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy
congenital non-communicating hydrocephalus
human disease
congenital nongoitrous hypothryoidism 2
congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13
congenital nongoitrous hypothryoidism 5
congenital hypothyroidism that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35
congenital nonspherocytic hemolytic anemia
Human disease
MeSH: D000746