Parent term(s)
X-linked dominant disease
+
physical disorder
+
MLS syndrome
+
Term with siblings
linear skin defects with multiple congenital anomalies 3
46,XX sex reversal 1
46,XX sex reversal 3
agnathia-otocephaly complex
alpha thalassemia-X-linked intellectual disability syndrome
amelogenesis imperfecta type 1E
arthrogryposis multiplex congenita
+
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis
+
bladder exstrophy-epispadias-cloacal exstrophy complex
+
blepharophimosis
caudal regression syndrome
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
CHILD syndrome
Christianson syndrome
chromosome Xp11.23-p11.22 duplication syndrome
cleft palate-lateral synechia syndrome
Coffin-Lowry 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 disorder of glycosylation type IIm
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 nystagmus 5
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
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 5
craniofrontonasal syndrome
cryptophthalmia
+
Danon disease
deafness, dystonia, and cerebral hypomyelination
developmental and epileptic encephalopathy 2
developmental and epileptic encephalopathy 36
developmental and epileptic encephalopathy 85
developmental and epileptic encephalopathy 9
developmental cardiac valvular defect
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
female-restricted syndromic X-linked intellectual disability 99
focal dermal hypoplasia
fragile X syndrome
gastroschisis
Holoprosencephaly 13, X-linked
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 1
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 2
Lisch epithelial corneal dystrophy
Meckel's diverticulum
multiple congenital anomalies-hypotonia-seizures syndrome
+
myotonia congenita
+
Nance-Horan syndrome
neonatal diabetes mellitus with congenital hypothyroidism
neural tube defect
+
neurodegeneration with brain iron accumulation 5
non-congenital cyst of kidney
non-syndromic X-linked intellectual disability 1
non-syndromic X-linked intellectual disability 107
non-syndromic X-linked intellectual disability 19
non-syndromic X-linked intellectual disability 2
non-syndromic X-linked intellectual disability 41
non-syndromic X-linked intellectual disability 63
non-syndromic X-linked intellectual disability 89
non-syndromic X-linked intellectual disability 91
non-syndromic X-linked intellectual disability 98
nonphotosensitive trichothiodystrophy 5
nonsyndromic congenital nail disorder
+
omphalocele
orofacial cleft
+
orofaciodigital syndrome I
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
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
+
primary ovarian insufficiency 2A
radioulnar synostosis
rapidly involuting congenital hemangioma
Raynaud-Claes syndrome
reducing body myopathy 1A
renal-hepatic-pancreatic dysplasia
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia
+
Silver-Russell syndrome
spondyloepiphyseal dysplasia with congenital joint dislocations
syndromic microphthalmia 2
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TORCH syndrome
visceral heterotaxy
+
X-linked Alport syndrome
X-linked chondrodysplasia punctata 2
+
X-linked dominant hypophosphatemic rickets
X-linked endothelial corneal dystrophy
Zika virus congenital syndrome
Child term(s)
denotes an 'is-a' relationship