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Ontology Browser

Term:
X-linked VACTERL association (DOID:0111766)
Annotations: Rat: (6) Mouse: (6) Human: (6) Chinchilla: (6) Bonobo: (6) Dog: (6) Squirrel: (6) Pig: (6)
Parent Terms Term With Siblings Child Terms
hydrocephalus +     
Macrocephaly +     
Aase Smith Syndrome 
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Autosomal Dominant Mental Retardation 63 with Macrocephaly  
Bagatelle Cassidy syndrome 
Baker Vinters Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Barth syndrome +   
Beemer Ertbruggen Syndrome 
Benign Familial Macrocephaly 
blue cone monochromacy  
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
chromosome 17q11.2 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
CK syndrome  
Clark-Baraitser syndrome  
Cole-Carpenter syndrome +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
combined oxidative phosphorylation deficiency 6  
communicating hydrocephalus +   
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies  
Congenital Hydrocephalus 3, with Brain Anomalies  
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Daentl Towsend Siegel Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
De Hauwere syndrome 
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
Edinburgh Malformation Syndrome 
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome +   
frontometaphyseal dysplasia 1  
Fryns Macrocephaly 
Galloway-Mowat syndrome 2  
Game Friedman Paradice Syndrome 
glycogen storage disease IXa  
glycogen storage disease IXd  
Hemimegalencephaly +   
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
HRPT-related hyperuricemia  
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Autosomal Dominant 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hydrolethalus syndrome +   
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
Iris Dysplasia Hypertelorism Deafness 
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Kniest Like Dysplasia Lethal  
Kozlowski Brown Hardwick Syndrome 
Lesch-Nyhan syndrome +   
Luscan-Lumish syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
MASA syndrome  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
megalocornea +   
MEHMO syndrome  
MEND syndrome  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
methylmalonic acidemia and homocysteinemia cblX type  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
nephrogenic syndrome of inappropriate antidiuresis  
Neuhauser Syndrome 
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82  
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92  
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
normal pressure hydrocephalus +   
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
obstructive hydrocephalus  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opitz GBBB syndrome type I  
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
Palmer Pagon Syndrome 
partial androgen insensitivity syndrome  
Partington syndrome  
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Posthemorrhagic Hydrocephalus  
Prieto syndrome 
primary ovarian insufficiency 2B  
Radius Absent Anogenital Anomalies 
Renpenning syndrome  
retinitis pigmentosa 23  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Ritscher-Schinzel syndrome 2  
Schwartz Cohen-Addad Lambert Syndrome 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Snijders Blok-Campeau Syndrome  
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
syndromic X-linked mental retardation 35  
Tenorio Syndrome  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thoracic Dysplasia-Hydrocephalus Syndrome 
Van Esch-O'Driscoll syndrome  
ventriculomegaly - cystic kidney disease  
Ventriculomegaly with Defects of the Radius and Kidney 
Waaler Aarskog Syndrome 
Waisman syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-linked atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-Linked Hydrocephalus +   
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia  
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  
A VACTERL association that has_material_basis_in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2. (DO)
Yim Ebbin Syndrome 
Zori Stalker Williams Syndrome 

Synonyms
Exact Synonyms: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS ;   VACTERL association with hydrocephaly ;   VACTERL association with hydrocephaly, X-linked ;   VACTERL hydrocephaly ;   VACTERL-H ;   VACTERL-H, X-Linked ;   VACTERL/VATER Association with Hydrocephalus ;   VACTERLX ;   VATER Association with Hydrocephalus ;   X-linked VACTERL association with hydrocephalus ;   X-linked VACTERL-H syndrome
Narrow Synonyms: VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS ;   VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY
Related Synonyms: VATER/VACTERL association with CNS malformations
Primary IDs: MESH:C564751 ;   MESH:C564752
Alternate IDs: OMIM:276950 ;   OMIM:314390
Xrefs: GARD:8498
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15502827 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20452998 "DO" "DO"

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