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Ontology Browser
Term:
X-linked spondyloepiphyseal dysplasia tarda (DOID:0080362)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
achondrogenesis type IA  
acromesomelic dysplasia, Maroteaux type  
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
atelosteogenesis +   
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
autosomal dominant osteopetrosis 2  
autosomal dominant spondyloepiphyseal dysplasia tarda 
autosomal recessive spondyloepiphyseal dysplasia tarda  
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type 
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
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  
chronic recurrent multifocal osteomyelitis +   
CK syndrome  
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital disorder of glycosylation type IIr  
congenital nongoitrous hypothyroidism 9  
congenital nonspherocytic hemolytic anemia 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
dropped head syndrome 
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
glycogen storage disease IXA  
glycogen storage disease IXD  
glycogen storage disease VIII  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
high grade glioma +   
Holoprosencephaly 13, X-linked  
HRPT-related hyperuricemia  
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 102  
immunodeficiency 118  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
immunodeficiency 98  
Intervertebral Disc Displacement +   
isolated growth hormone deficiency type III  
Joubert syndrome 10  
KBG syndrome  
Keipert syndrome  
Kennedy's disease  
Klippel-Feil syndrome +   
Laplane Fontaine Lagardere Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
Microcephaly with Cervical Spine Fusion Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
nephrogenic syndrome of inappropriate antidiuresis  
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  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opitz GBBB syndrome  
orofaciodigital syndrome VIII 
Ossification of Posterior Longitudinal Ligament +   
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
partial androgen insensitivity syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Platybasia +  
Prieto syndrome  
primary ovarian insufficiency 2B  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
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  
spastic paraplegia with deafness 
spinal chordoma +   
Spinal Curvatures +   
Spinal Neoplasms 
Spinal Osteochondrosis +   
Spinal Osteophytosis +   
spondylitis +   
Spondylocamptodactyly 
spondylocostal dysostosis +   
spondyloepimetaphyseal dysplasia +   
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondyloepiphyseal dysplasia tarda with intellectual disability 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
spondylosis +   
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 35  
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  
Van Esch-O'Driscoll syndrome  
vertebral hypersegmentation and orofacial anomalies  
visceral heterotaxy 1  
Waisman syndrome  
Wieacker-Wolff 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 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 nephrogenic diabetes insipidus  
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 spermatogenic failure 7  
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  
A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  

Synonyms
Exact Synonyms: SED tarda ;   SED tarda, X-linked ;   SEDT ;   TRAPPC2-RELATED CONDITION ;   X-linked SED ;   X-linked SEDT
Primary IDs: MIM:313400
Xrefs: ORDO:93284
Definition Sources: https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda "DO" "DO"

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