Parent term(s)
physical disorder
+
lipid metabolism disorder
+
Term with siblings
multiple congenital anomalies-hypotonia-seizures syndrome +
agnathia-otocephaly complex
arthrogryposis multiplex congenita
+
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis
+
bladder exstrophy-epispadias-cloacal exstrophy complex
+
blepharophimosis
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency
carnitine-acylcarnitine translocase deficiency
caudal regression syndrome
cholesterol-ester transfer protein deficiency
+
chylomicron retention disease
CK 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 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
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
familial hyperlipidemia
+
gastroschisis
hypolipoproteinemia
+
hypospadias
imperforate anus
Klippel-Feil 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
lipoid proteinosis
Meckel's diverticulum
medium chain acyl-CoA dehydrogenase deficiency
MEND syndrome
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency
+
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
Refsum disease
renal-hepatic-pancreatic dysplasia
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia
+
short chain acyl-CoA dehydrogenase deficiency
Silver-Russell syndrome
Smith-Lemli-Opitz syndrome
spondyloepiphyseal dysplasia with congenital joint dislocations
steroid inherited metabolic disorder
+
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TORCH syndrome
very long chain acyl-CoA dehydrogenase deficiency
visceral heterotaxy
+
Zika virus congenital syndrome
Child term(s)
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple congenital anomalies-hypotonia-seizures syndrome 4
denotes an 'is-a' relationship