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Term:
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy (DOID:9000068)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Aicardi syndrome 
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
Anauxetic Dysplasia +   
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Arthrogryposis, X-Linked, Type V 
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 40  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Choroideremia +   
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
Cystic Leukoencephalopathy without Megalencephaly  
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
deafness-intellectual disability, Martin-Probst type syndrome  
Demyelinating Autoimmune Diseases, CNS +   
Dilated Cardiomyopathy 3A  
Dyggve-Melchior-Clausen disease +   
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Epidermodysplasia Verruciformis, X-Linked 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
Fetal Akinesia Syndrome, X-Linked 
glycogen storage disease VIII 
Hereditary Central Nervous System Demyelinating Diseases +   
High-Frequency Deafness, Sensorineural, X-Linked 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Labrune Syndrome  
Leigh Syndrome, X-Linked  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Liberfarb Syndrome  
McLeod syndrome  
Meester-Loeys syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
metatropic dysplasia  
Microcephaly Microcornea Syndrome Seemanova Type 
Midline Defects, X-Linked 
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES  
Nystagmus 5, Infantile Periodic Alternating 
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Ogden syndrome  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2 +   
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Posterior Leukoencephalopathy Syndrome  
primary ovarian insufficiency 1  
primary ovarian insufficiency 4 
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Ribose 5-Phosphate Isomerase Deficiency  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Schimke immuno-osseous dysplasia  
Selective Tooth Agenesis, X-Linked, 1  
Sketetal Dysplasia Coarse Facies Mental Retardation  
spastic ataxia 3  
Spina Bifida, X-Linked 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
spondyloepimetaphyseal dysplasia with joint laxity +   
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type  
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type  
Spondyloepimetaphyseal Dysplasia, Krakow Type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondylometaepiphyseal dysplasia, short limb-hand type  
Spondylometaphyseal Dysplasia, X-Linked 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 13  
TARP syndrome  
Telencephalic Leukoencephalopathy 
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
vascular dementia +   
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
Von Willebrand Disease, X-Linked Form 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
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 Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Macular Dystrophy +   
X-Linked Modifier for Neurofunctional Defects 
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 spondyloepimetaphyseal dysplasia  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked thrombophilia due to factor IX defect  
X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: LKMCD ;   SEMDHL ;   X-linked SEMD with mental deterioration ;   X-linked spondyloepimetaphyseal dysplasia with mental deterioration ;   leukoencephalopathy with metaphyseal chondrodysplasia
Primary IDs: MESH:C567065
Alternate IDs: OMIM:300232

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