monogenic disease

monogenic disease Show first 5 Terms

46,XY sex reversal 2 Abruzzo-Erickson syndrome cataract 40 congenital bilateral absence of vas deferens corpus callosum agenesis-abnormal genitalia syndrome ... Show All 41 Terms

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 dilated cardiomyopathy 3B 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 13 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 thrombophilia due to factor IX defect Show first 5 Terms