Parent term(s)
physical disorder
+
neuromuscular junction disease
+
Term with siblings
congenital myasthenic syndrome +
agnathia-otocephaly complex
arthrogryposis multiplex congenita
+
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis
+
bladder exstrophy-epispadias-cloacal exstrophy complex
+
blepharophimosis
caudal regression syndrome
cleft palate-lateral synechia syndrome
Compton-North congenital myopathy
congenital adrenal hyperplasia
congenital adrenal insufficiency
congenital afibrinogenemia
congenital amegakaryocytic thrombocytopenia
congenital aphakia
congenital bilateral absence of vas deferens
+
congenital bile acid synthesis defect
+
congenital central hypoventilation syndrome
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia
congenital diarrhea
+
congenital disorder of glycosylation
+
congenital epulis
congenital fibrosarcoma
congenital fibrosis of the extraocular muscles
+
congenital generalized lipodystrophy
+
congenital granular cell tumor
congenital heart block
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital heart disease
+
congenital hemolytic anemia
+
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia
+
congenital hypothyroidism
+
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital megabladder
congenital mesoblastic nephroma
+
congenital mirror movement disorder
congenital muscular dystrophy
+
congenital myopathy 4A
+
congenital nervous system abnormality
+
congenital nystagmus
+
congenital ptosis
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness
+
congenital stromal corneal dystrophy
congenital structural myopathy
+
congenital sucrase-isomaltase deficiency
congenital syphilis
+
congenital toxoplasmosis
congenital vertical talus
cryptophthalmia
+
developmental cardiac valvular defect
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
gastroschisis
hypospadias
imperforate anus
Klippel-Feil syndrome
+
Lambert-Eaton myasthenic syndrome
large congenital melanocytic nevus
laryngomalacia
Leber congenital amaurosis
+
lethal congenital contracture syndrome
+
lethal congenital glycogen storage disease of heart
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
Meckel's diverticulum
multiple congenital anomalies-hypotonia-seizures syndrome
+
myotonia congenita
+
neonatal diabetes mellitus with congenital hypothyroidism
neural tube defect
+
non-congenital cyst of kidney
nonsyndromic congenital nail disorder
+
omphalocele
orofacial cleft
+
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Poland syndrome
polydactyly
+
primary congenital glaucoma
+
radioulnar synostosis
rapidly involuting congenital hemangioma
renal-hepatic-pancreatic dysplasia
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia
+
Silver-Russell syndrome
spondyloepiphyseal dysplasia with congenital joint dislocations
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TORCH syndrome
visceral heterotaxy
+
Zika virus congenital syndrome
Child term(s)
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 18
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 22
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 7
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
denotes an 'is-a' relationship