Parent term(s)
X-linked monogenic disease
+
syndromic microphthalmia
+
Term with siblings
syndromic microphthalmia 13
46,XY sex reversal 2
Abruzzo-Erickson syndrome
cataract 40
congenital bilateral absence of vas deferens
+
corpus callosum agenesis-abnormal genitalia syndrome
developmental and epileptic encephalopathy 90
fetal akinesia deformation sequence syndrome X-linked
McLeod syndrome
Meester-Loeys syndrome
Melnick-Needles syndrome
non-syndromic X-linked intellectual disability
+
Ogden syndrome
ovarian dysgenesis 2
primary ovarian insufficiency 1
primary ovarian insufficiency 4
reducing body myopathy 1B
retinitis pigmentosa 2
retinitis pigmentosa 24
split hand-foot malformation 2
syndromic microphthalmia 1
syndromic microphthalmia 1
syndromic microphthalmia 10
syndromic microphthalmia 11
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 2
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic microphthalmia 8
syndromic microphthalmia 9
syndromic X-linked intellectual disability
+
TARP syndrome
X-linked cardiac valvular dysplasia
X-linked central diabetes insipidus
X-linked cleft palate with or without ankyloglossia
X-linked dilated cardiomyopathy
X-linked dominant disease
+
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia
+
X-linked hypoparathyroidism
X-linked lissencephaly 1
X-linked lissencephaly 2
X-linked nonsyndromic deafness
+
X-linked panhypopituitarism
X-linked recessive disease
+
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked spermatogenic failure 4
X-linked spermatogenic failure 5
X-linked spermatogenic failure 6
X-linked spermatogenic failure 8
X-linked thrombophilia due to factor IX defect
Child term(s)
denotes an 'is-a' relationship