Disease Browser
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Parent Node: Mental Retardation, X-Linked (D038901) | ..Starting node ..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
| Child Nodes:
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Sister Nodes: | ..Abidi X-linked mental retardation syndrome (C535556)
| ..Adrenoleukodystrophy (D000326) 4
| ..Aldred syndrome (C537046)
| ..Allan-Herndon-Dudley syndrome (C537047)
| ..Arena syndrome (C537428)
| ..Armfield X-Linked Mental Retardation Syndrome (C564551)
| ..Atkin syndrome (C538195)
| ..ATR-X syndrome (C538258)
| ..Borjeson-Forssman-Lehmann syndrome (C536575)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Chromosome Xp11.3 Deletion Syndrome (C564481)
| ..CK SYNDROME (OMIM:300831)
| ..Clark-Baraitser syndrome (C536208)
| ..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
| ..Coffin-Lowry Syndrome (D038921)
| ..Cowchock syndrome (C536450)
| ..Creatine deficiency, X-linked (C535598)
| ..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
| ..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
| ..Fragile X Syndrome (D005600) 3
| ..Glycogen Storage Disease Type IIb (D052120)
| ..Lesch-Nyhan Syndrome (D007926) 1
| ..Lubs X-linked mental retardation syndrome (C537723)
| ..Lujan Fryns syndrome (C537724)
| ..MEHMO syndrome (C537451)
| ..Menkes Kinky Hair Syndrome (D007706) 1
| ..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
| ..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
| ..Mental retardation X-linked syndromic 7 (C537449)
| ..Mental retardation X-linked, South African type (C537450)
| ..Mental Retardation, X-Linked 1 (C567906)
| ..Mental retardation, X-linked 14 (C537454)
| ..Mental Retardation, X-Linked 16 (C563139)
| ..Mental Retardation, X-Linked 17 (C563140)
| ..Mental Retardation, X-Linked 19 (C563141)
| ..Mental Retardation, X-Linked 2 (C563135)
| ..Mental Retardation, X-Linked 20 (C563142)
| ..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
| ..Mental Retardation, X-Linked 23 (C563144)
| ..Mental Retardation, X-Linked 3 (C563136)
| ..Mental Retardation, X-Linked 30 (C563146)
| ..Mental Retardation, X-Linked 31 (C563147)
| ..Mental Retardation, X-Linked 34 (C563148)
| ..Mental Retardation, X-Linked 42 (C564524)
| ..Mental Retardation, X-Linked 45 (C564503)
| ..Mental Retardation, X-Linked 46 (C564513)
| ..Mental Retardation, X-Linked 47 (C563151)
| ..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
| ..Mental Retardation, X-Linked 50 (C564713)
| ..Mental Retardation, X-Linked 52 (C564502)
| ..Mental Retardation, X-Linked 53 (C564533)
| ..Mental Retardation, X-Linked 58 (C564566)
| ..Mental Retardation, X-Linked 59 (C564470)
| ..Mental Retardation, X-Linked 63 (C564522)
| ..Mental Retardation, X-Linked 72 (C564547)
| ..Mental Retardation, X-Linked 73 (C564528)
| ..Mental Retardation, X-Linked 77 (C564511)
| ..Mental Retardation, X-Linked 78 (C564489)
| ..Mental Retardation, X-Linked 79 (C566876)
| ..Mental Retardation, X-Linked 81 (C564515)
| ..Mental Retardation, X-Linked 82 (C564496)
| ..Mental Retardation, X-Linked 84 (C564501)
| ..Mental Retardation, X-Linked 89 (C564036)
| ..Mental Retardation, X-Linked 9 (C563137)
| ..Mental Retardation, X-Linked 91 (C564482)
| ..Mental Retardation, X-Linked 92 (C564483)
| ..Mental Retardation, X-Linked 93 (C567066)
| ..Mental Retardation, X-Linked 94 (C567479)
| ..Mental Retardation, X-Linked 95 (C567470)
| ..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
| ..Mental Retardation, X-Linked Nonsyndromic (C564490)
| ..Mental Retardation, X-Linked, Syndromic 10 (C564560)
| ..Mental Retardation, X-Linked, Syndromic 13 (C566875)
| ..Mental Retardation, X-Linked, Syndromic 14 (C567063)
| ..Mental retardation, X-linked, syndromic 5 (C535773)
| ..Mental Retardation, X-Linked, Syndromic 9 (C567474)
| ..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
| ..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
| ..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
| ..Mental Retardation, X-Linked, Syp-Related (C567584)
| ..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
| ..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
| ..Mental Retardation, X-Linked, with Epilepsy (C564516)
| ..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
| ..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
| ..Mental Retardation, X-Linked, with Short Stature (C564527)
| ..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
| ..Mental Retardation, X-Linked, With Spasticity (C566877)
| ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| ..Microphthalmia, Syndromic 4 (C564457)
| ..Miles-Carpenter x-linked mental retardation syndrome (C537472)
| ..Mucopolysaccharidosis II (D016532)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Orofaciodigital syndrome, Shashi type (C537135)
| ..Partington X-linked mental retardation syndrome (C536300)
| ..Plagiocephaly and X-linked mental retardation (C537512)
| ..Ppm-X Syndrome (C580387)
| ..Prieto X-linked mental retardation syndrome (C535274)
| ..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
| ..Renpenning syndrome 1 (C537761)
| ..Rett Syndrome (D015518) 5
| ..Roifman syndrome (C535866)
| ..Schimke X-linked mental retardation syndrome (C536630)
| ..Siderius X-linked mental retardation syndrome (C537333)
| ..Snyder Robinson syndrome (C536678)
| ..Stocco dos Santos syndrome (C537495)
| ..Tranebjaerg Svejgaard syndrome (C536978)
| ..Wilson-Turner X-linked mental retardation syndrome (C536708)
| ..Wittwer syndrome (C536737)
| ..X-linked mental retardation Gustavson type (C536759)
| ..X-linked mental retardation type Wittwer (C536760)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7064 |
Name: | MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D038901 |
TreeNumbers: | C10.597.606.643.455/300799 |C16.320.322.500/300799 |C16.320.400.525/300799 |
Synonyms: | MRXSR |
Slim Mappings: | Genetic disease (inborn)|Nervous system disease |
Reference: |
MedGen: 300799
MeSH: 300799
OMIM: 300799;
Genes: ZDHHC9; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001008222.2(ZDHHC9):c.893G>A (p.Arg298Gln) | 51114 | ZDHHC9 | Uncertain significance | 869312679 | RCV000209872; | N | MedGen:C2749033,OMIM:300799 | X | 128944966 | 128944966 | NM_001008222.2:c.893G>A | NP_001008223.1:p.Arg298Gln | NC_000023.10:g.128944966C>T | - | C2749033 300799 Mental retardation, X-linked, syndromic, raymond type | | | NM_001008222.2(ZDHHC9):c.448C>T (p.Pro150Ser) | 51114 | ZDHHC9 | Pathogenic | 137852215 | RCV000011458; | N | MedGen:C2749033,OMIM:300799 | X | 128957694 | 128957694 | NM_001008222.2:c.448C>T | NP_001008223.1:p.Pro150Ser | NC_000023.10:g.128957694G>A | OMIM Allelic Variant:300646.0004 | C2749033 300799 Mental retardation, X-linked, syndromic, raymond type | | | NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp) | 51114 | ZDHHC9 | Pathogenic | 137852214 | RCV000011457; | N | MedGen:C2749033,OMIM:300799 | X | 128957700 | 128957700 | NM_001008222.2:c.442C>T | NP_001008223.1:p.Arg148Trp | NC_000023.10:g.128957700G>A | OMIM Allelic Variant:300646.0003 | C2749033 300799 Mental retardation, X-linked, syndromic, raymond type | | | NM_001008222.2(ZDHHC9):c.172_175delCGCT (p.Arg58Thrfs) | 51114 | ZDHHC9 | Pathogenic | 606231182 | RCV000011455; | N | MedGen:C2749033,OMIM:300799 | X | 128963110 | 128963113 | NM_001008222.2:c.172_175delCGCT | NP_001008223.1:p.Arg58Thrfs | NC_000023.10:g.128963110_128963113delAGCG | OMIM Allelic Variant:300646.0001 | C2749033 300799 Mental retardation, X-linked, syndromic, raymond type | | | NM_001008222.2(ZDHHC9):c.167+5G>C | 51114 | ZDHHC9 | Pathogenic | 606231183 | RCV000011456; | N | MedGen:C2749033,OMIM:300799 | X | 128975750 | 128975750 | NM_001008222.2:c.167+5G>C | | NC_000023.10:g.128975750C>G | OMIM Allelic Variant:300646.0002 | C2749033 300799 Mental retardation, X-linked, syndromic, raymond type | | |
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