Term with siblings
linear skin defects with multiple congenital anomalies 1

46,XX sex reversal 1
46,XX sex reversal 3
agnathia-otocephaly complex
alpha thalassemia-X-linked intellectual disability syndrome
amelogenesis imperfecta type 1E
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
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Christianson syndrome
chromosome Xp11.23-p11.22 duplication syndrome
cleft palate-lateral synechia syndrome
Coffin-Lowry syndrome
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 +
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 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
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 2
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
linear skin defects with multiple congenital anomalies 3
linear skin defects with multiple congenital anomalies 3
Lisch epithelial corneal dystrophy
Meckel's diverticulum
multiple congenital anomalies-hypotonia-seizures syndrome +
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)

is-a denotes an 'is-a' relationship