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Term:
multiple congenital anomalies-hypotonia-seizures syndrome 2 (DOID:0080139)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Barth syndrome +   
blue cone monochromacy  
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  
congenital disorder of glycosylation Iy  
congenital disorder of glycosylation type IIm  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Dravet syndrome  
Duchenne muscular dystrophy +   
early infantile epileptic encephalopathy 1  
early infantile epileptic encephalopathy 11  
early infantile epileptic encephalopathy 12  
early infantile epileptic encephalopathy 13  
early infantile epileptic encephalopathy 14  
early infantile epileptic encephalopathy 15  
early infantile epileptic encephalopathy 16  
early infantile epileptic encephalopathy 17  
early infantile epileptic encephalopathy 18  
early infantile epileptic encephalopathy 19  
early infantile epileptic encephalopathy 2  
early infantile epileptic encephalopathy 21  
early infantile epileptic encephalopathy 23  
early infantile epileptic encephalopathy 24  
early infantile epileptic encephalopathy 25  
early infantile epileptic encephalopathy 26  
early infantile epileptic encephalopathy 27  
early infantile epileptic encephalopathy 28  
early infantile epileptic encephalopathy 29  
early infantile epileptic encephalopathy 3  
early infantile epileptic encephalopathy 30  
early infantile epileptic encephalopathy 31  
early infantile epileptic encephalopathy 32  
early infantile epileptic encephalopathy 33  
early infantile epileptic encephalopathy 34  
early infantile epileptic encephalopathy 35  
early infantile epileptic encephalopathy 36  
early infantile epileptic encephalopathy 37  
early infantile epileptic encephalopathy 38  
early infantile epileptic encephalopathy 39  
early infantile epileptic encephalopathy 4  
early infantile epileptic encephalopathy 40  
early infantile epileptic encephalopathy 41  
early infantile epileptic encephalopathy 42  
early infantile epileptic encephalopathy 43  
early infantile epileptic encephalopathy 44  
early infantile epileptic encephalopathy 45  
early infantile epileptic encephalopathy 46  
early infantile epileptic encephalopathy 47  
early infantile epileptic encephalopathy 48  
early infantile epileptic encephalopathy 49  
early infantile epileptic encephalopathy 5  
early infantile epileptic encephalopathy 50  
early infantile epileptic encephalopathy 51  
early infantile epileptic encephalopathy 52  
early infantile epileptic encephalopathy 53  
early infantile epileptic encephalopathy 54  
early infantile epileptic encephalopathy 55  
early infantile epileptic encephalopathy 56  
early infantile epileptic encephalopathy 57  
early infantile epileptic encephalopathy 58  
early infantile epileptic encephalopathy 59  
early infantile epileptic encephalopathy 60  
early infantile epileptic encephalopathy 61  
early infantile epileptic encephalopathy 62  
early infantile epileptic encephalopathy 63  
early infantile epileptic encephalopathy 65  
early infantile epileptic encephalopathy 66  
early infantile epileptic encephalopathy 7  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Infantile Epileptic Encephalopathy, 64  
Early Infantile Epileptic Encephalopathy, 67  
Early Infantile Epileptic Encephalopathy, 68  
Early Infantile Epileptic Encephalopathy, 69  
Early Infantile Epileptic Encephalopathy, 70  
Early Infantile Epileptic Encephalopathy, 71  
Early Infantile Epileptic Encephalopathy, 72  
Early Infantile Epileptic Encephalopathy, 73  
Early Infantile Epileptic Encephalopathy, 74  
Early Infantile Epileptic Encephalopathy, 75  
Early Infantile Epileptic Encephalopathy, 76  
Early Infantile Epileptic Encephalopathy, 77  
Early Infantile Epileptic Encephalopathy, 78  
Early Infantile Epileptic Encephalopathy, 79  
Early Infantile Epileptic Encephalopathy, 80  
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome  
glycogen storage disease IXa  
glycogen storage disease IXd  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
hypogonadotropic hypogonadism 1 with or without anosmia  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kennedy's disease  
Lesch-Nyhan syndrome +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
microcephaly, seizures, and developmental delay  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Ogden syndrome  
Opitz-GBBB syndrome +   
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spondyloepiphyseal dysplasia tarda +   
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  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked cone-rod dystrophy 3  
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 with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-linked recessive hypophosphatemic rickets  
X-Linked Recessive Nephrolithiasis with Renal Failure  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  

Synonyms
Exact Synonyms: EIEE20 ;   GPIBD4 ;   MCAHS2 ;   early infantile epileptic encephalopathy 20 ;   glycosylphosphatidylinositol biosynthesis defect 4
Primary IDs: OMIM:300868
Alternate IDs: DOID:0080466 ;   RDO:9000576
Xrefs: GARD:12777 ;   ORDO:300496
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10441586, https://www.ncbi.nlm.nih.gov/pubmed/22305531

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.