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Ontology Browser
Term:
methylmalonic acidemia and homocysteinemia cblX type (DOID:0111814)
Annotations: Rat: (11) Mouse: (11) Human: (15) Chinchilla: (10) Bonobo: (11) Dog: (12) Squirrel: (10) Pig: (12) Naked Mole-rat: (9) Green Monkey: (11)
Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
Aland Island eye disease  
Aldred Syndrome 
Allan-Herndon-Dudley syndrome  
alpha thalassemia-X-linked intellectual disability syndrome  
Arena Syndrome 
Atkin Syndrome  
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
cerebral creatine deficiency syndrome 1  
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  
Chromosome Xp11.3 Deletion Syndrome 
CK syndrome  
Classical Lissencephalies and Subcortical Band Heterotopias +   
Coffin-Lowry syndrome  
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Danon disease  
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 +   
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome +   
fragile X 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 
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 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Lesch-Nyhan syndrome +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
Menkes disease +   
Mental Retardation X-Linked, South African Type 
Mental Retardation, X-Linked, Syp-Related 
methylmalonic acidemia and homocysteinemia cblX type  
A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)
methylmalonic aciduria and homocystinuria type cblC  
methylmalonic aciduria and homocystinuria type cblD  
methylmalonic aciduria and homocystinuria type cblE 
methylmalonic aciduria and homocystinuria type cblF  
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonic Aciduria and Homocystinuria, cblJ Type  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
mucopolysaccharidosis II  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
nephrogenic syndrome of inappropriate antidiuresis  
non-syndromic X-linked intellectual disability +   
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 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
partial androgen insensitivity syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Plagiocephaly and X-Linked Mental Retardation 
Prieto syndrome  
primary ovarian insufficiency 2B  
pyruvate decarboxylase deficiency +   
Renpenning syndrome  
retinitis pigmentosa 23  
Rett syndrome +   
Ritscher-Schinzel syndrome 2  
Roifman 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  
spastic paraplegia with deafness 
syndactyly type 8  
syndromic microphthalmia 1  
syndromic X-linked intellectual disability +   
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  
Tranebjaerg Svejgaard syndrome 
Van Esch-O'Driscoll syndrome  
Waisman syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
Wittwer 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 Developmental Disorder 95 
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 Mental Retardation with Isolated Growth Hormone Deficiency  
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 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  

Synonyms
Exact Synonyms: MAXCX ;   MRX3 ;   X-linked intellectual developmental disorder 3 ;   X-linked mental retardation 3 ;   XLID3 ;   combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX ;   methylmalonic aciduria with homocystinuria, type cblX
Primary IDs: OMIM:309541
Alternate IDs: MESH:C563136
Xrefs: ORDO:369962
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23000143 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24011988 "DO" "DO"

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