C85865Level 4

X-Linked Inherited Disorder

**Semantic type:** Disease or Syndrome

**Definition:** An inherited disorder affecting mostly males. It results from defective genes that are present on the X chromosome.

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C118631Alpha Thalassemia X-Linked Intellectual Disability Syndrome

C118634Norrie Syndrome

C118781X-Linked Centronuclear Myopathy

C118785Ocular Albinism Type 1

C118843Allan-Herndon-Dudley Syndrome

C118845Otopalatodigital Syndrome Type 1

C120113Short Stature Homeobox Deficiency

C123260Dent Disease

C123725X-Linked Adrenal Hypoplasia Congenita

C124839Pettigrew Syndrome

C125487Opitz G/BBB Syndrome

C125665Cerebral Creatine Deficiency Syndrome 1

C126330X-Linked Dystonia Parkinsonism

C126336X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia

C126352X-Linked Dyskeratosis Congenita

C126566Fragile X Tremor/Ataxia Syndrome

C126738Phosphoglycerate Kinase 1 Deficiency

C126747Lubs X-Linked Intellectual Disability Syndrome

C129068Charcot-Marie-Tooth Neuropathy X Type 1

C129720Aarskog Syndrome

C129930MASA Syndrome

C129931Intellectual Developmental Disorder, X-linked 102

C130989Immunoglobulin Superfamily Member 1 Deficiency Syndrome

C131009Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome

C131079X-Linked Hypoparathyroidism

C133729Intellectual Developmental Disorder, X-linked 1

C134941X-Linked Thrombocytopenia with Beta-Thalassemia

C136653X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia

C141423Ehlers-Danlos Syndrome, Type V

C142803Developmental and Epileptic Encephalopathy 36

C147070Developmental and Epileptic Encephalopathy 2

C154315X-linked Chronic Granulomatous Disease

C157122Intellectual Developmental Disorder, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

C158531Immunodeficiency with Hyper-IgM, X-Linked, Type 1

C165533Renpenning Syndrome

C167216Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type

C168730Emery-Dreifuss Muscular Dystrophy 1, X-Linked

C171270FG Syndrome Type 1

C173469X-Linked Cardiac Valvular Dysplasia

C173571PIGA Deficiency

C176592Ectodermal Dysplasia and Immunodeficiency 1

C176617Thrombocytopenia 1

C176818Neutropenia, Severe Congenital, X-Linked

C179707Intellectual Developmental Disorder, X-linked 21/34

C179866Developmental and Epileptic Encephalopathy 1

C180843X-Linked Deafness-5, with Peripheral Neuropathy

C180844X-Linked Deafness-4

C181001Intellectual Developmental Disorder, X-Linked Syndromic, Christianson Type

C181924VEXAS Syndrome

C183311Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type

C184991Waisman Syndrome

C188215Ogden Syndrome

C188996X-Linked Spondyloepimetaphyseal Dysplasia

C198578Female-Restricted Wieacker-Wolff Syndrome

C201590Developmental and Epileptic Encephalopathy 9

C202069Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type

C202548Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects

C206103X-Linked Dominant Scapuloperoneal Myopathy

C206528X-Linked Ohdo Syndrome

C206529X-Linked Syndromic Intellectual Developmental Disorder with Pigmentary Mosaicism and Coarse Facies

C212036Adrenomyeloneuropathy

C220234X-Linked Absence of Thyroxine-Binding Globulin

C34469Choroideremia

C3448Wiskott-Aldrich Syndrome

C35256Aicardi Syndrome

C3822X-Linked Agammaglobulinemia

C4682X-Linked Severe Combined Immunodeficiency

C61246X-Linked Lymphoproliferative Syndrome

C61255Lesch-Nyhan Syndrome

C61260Hunter Syndrome

C75480Kallmann Syndrome 1

C75482Duchenne Muscular Dystrophy

C75483Juvenile X-Linked Retinoschisis

C75485X-Linked Cornelia De Lange Syndrome

C75487Pelizaeus-Merzbacher Disease

C75488Rett Syndrome

C84562Anhidrotic Ectodermal Dysplasia 1

C84587Becker's Muscular Dystrophy

C84701Fabry Disease

C84717Fragile X Syndrome

C84735Glycogen Storage Disease Type IIb

C84779X-Linked Ichthyosis

C84940Oculocerebrorenal Syndrome

C85233Spinal and Bulbar Muscular Atrophy, X-linked 1

C85234X-Linked Dominant Hypophosphatemic Rickets

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