Parent term(s)
Term with siblings
Leber congenital amaurosis +

agnathia-otocephaly complex
angioid streaks +
arthrogryposis multiplex congenita +
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
bladder exstrophy-epispadias-cloacal exstrophy complex +
blepharophimosis
bradyopsia +
caudal regression syndrome
chorioretinal scar +
cleft palate-lateral synechia syndrome
Compton-North congenital myopathy
cone dystrophy +
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 myasthenic syndrome +
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
enhanced S-cone syndrome
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
familial benign fleck retina
foveal hypoplasia 1
foveal hypoplasia 2
gastroschisis
hypertensive retinopathy
hypospadias
imperforate anus
Klippel-Feil syndrome +
large congenital melanocytic nevus
laryngomalacia
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
macular holes
Meckel's diverticulum
multiple congenital anomalies-hypotonia-seizures syndrome +
myotonia congenita +
neonatal diabetes mellitus with congenital hypothyroidism
neovascular inflammatory vitreoretinopathy
nerve fibre bundle defect
neural tube defect +
night blindness +
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
retinal cancer +
retinal degeneration +
retinal detachment +
retinal edema +
retinal vascular disease +
retinitis +
retinopathy of prematurity
rubeosis iridis
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)

is-a denotes an 'is-a' relationship