Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandChromosome Disorders (D025063)
..Starting node
..expandRecombinant chromosome 8 syndrome (C535296)

       Child Nodes:



 Sister Nodes: 
..expand10p Deletion Syndrome (Partial) (C538288)
..expand13q deletion syndrome (C535484) Child1
..expand15q24 Microdeletion (C579849)
..expand16p11.2 Deletion Syndrome (C579850)
..expand22q11 Deletion Syndrome (D058165) Child5
..expand6q+ Syndrome, Partial (C537810)
..expand7p2 monosomy syndrome (C537818)
..expand9q22.3 Microdeletion (C579873)
..expandAngelman Syndrome (D017204) Child1
..expandBeckwith-Wiedemann Syndrome (D001506) Child1
..expandBranchio-Oto-Renal Syndrome (D019280) Child5
..expandChromosome 10q duplication syndrome (C537804)
..expandChromosome 13q-mosaicism (C535486)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandChromosome 17p13.3 Duplication Syndrome (C567705)
..expandChromosome 18 deletion syndrome (C536580)
..expandChromosome 18p deletion syndrome (C538309)
..expandChromosome 19q13.11 Deletion Syndrome (C567810)
..expandChromosome 1p36 Deletion Syndrome (C535362)
..expandChromosome 22, monosome mosaic (C536798)
..expandChromosome 3 duplication syndrome (C536803)
..expandChromosome 3q29 Duplication Syndrome (C567626)
..expandChromosome 4, 4q Terminal Deletion Syndrome (C537641)
..expandChromosome 4q- Syndrome (C537639)
..expandChromosome 5p13 Duplication Syndrome (C567717)
..expandChromosome 6 ring syndrome (C537763)
..expandChromosome 7 ring syndrome (C537813)
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandContiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..expandCri-du-Chat Syndrome (D003410) Child6
..expandDe Lange Syndrome (D003635) Child1
..expandDelayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..expandDeletion 13q syndrome, partial (C535449)
..expandDistal Trisomy 10q Syndrome (C538087)
..expandDown Syndrome (D004314) Child6
..expandDuplication 4p Syndrome (C537643)
..expandEdinburgh Malformation Syndrome (C563051)
..expandEmanuel syndrome (C535733)
..expandFragile Site 16p12 (C565001)
..expandHoloprosencephaly (D016142) Child22
..expandIsodicentric Chromosome 15 Syndrome (C580205)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandMental Retardation, Fra12a Type (C566980)
..expandMonosomy 7 of Bone Marrow (C565370)
..expandMosaic variegated aneuploidy syndrome (C536987)
..expandNF1 Microduplication Syndrome (C567173)
..expandOtodental Dysplasia (C563482)
..expandPallister Killian syndrome (C538105)
..expandPartial Duplication 15q Syndrome (C538036)
..expandPartial Trisomy 3q Syndrome (C537635)
..expandPatau syndrome (C536305)
..expandPotocki-Shaffer syndrome (C538356)
..expandPrader-Willi Syndrome (D011218) Child2
..expandRecombinant chromosome 8 syndrome (C535296)
..expandRing chromosome 4 syndrome (C537636)
..expandRubinstein-Taybi Syndrome (D012415) Child2
..expandSchmid-Fraccaro syndrome (C535918)
..expandSex Chromosome Disorders (D025064) Child32
..expandSilver-Russell Syndrome (D056730) Child1
..expandSmith-Magenis Syndrome (D058496) Child1
..expandSotos Syndrome (D058495) Child1
..expandTelomeric 22q13 Monosomy Syndrome (C536801)
..expandThrombocytopenia chromosome breakage (C536519)
..expandTrisomy 18-Like Syndrome (C563382)
..expandTrisomy 22 mosaicism syndrome (C536796)
..expandWAGR Syndrome (D017624) Child2
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWilliams Syndrome (D018980) Child1
..expandWolf-Hirschhorn Syndrome (D054877)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9612
Name:Recombinant chromosome 8 syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D025063
TreeNumbers:C16.131.260/C535296 |C16.320.180/C535296
Synonyms:Rec(8) Syndrome |Recombinant 8 Syndrome |San Luis Valley recombinant chromosome 8 syndrome |San Luis Valley syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)
Reference: MedGen: C535296
MeSH: C535296
OMIM: 179613;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000164Abnormality of the dentition
3 HP:0000463Anteverted nares
4 HP:0001631Atrial septal defect
5 HP:0000248Brachycephaly
6 HP:0000283Broad face
7 HP:0012385Camptodactyly
8 HP:0002059Cerebral atrophy
9 HP:0004209Clinodactyly of the 5th finger
10 HP:0000028Cryptorchidism
11 HP:0002188Delayed CNS myelination
12 HP:0005280Depressed nasal bridge
13 HP:0001719Double outlet right ventricle
14 HP:0002714Downturned corners of mouth
15 HP:0001290Generalized hypotonia
16 HP:0000212Gingival overgrowth
17 HP:0001263Global developmental delay
18 HP:0001510Growth delay
19 HP:0000365Hearing impairment
20 HP:0000126Hydronephrosis
21 HP:0000316Hypertelorism
22 HP:0001276Hypertonia
23 HP:0001252Hypotonia
24 HP:0100876Infra-orbital crease
25 HP:0001249Intellectual disability
26 HP:0009473Joint contracture of the hand
27 HP:0002162Low posterior hairline
28 HP:0000369Low-set ears
29 HP:0000272Malar flattening
30 HP:0000347Micrognathia
31 HP:0011800Midface retrusion
32 HP:0001643Patent ductus arteriosus
33 HP:0000767Pectus excavatum
34 HP:0000358Posteriorly rotated ears
35 HP:0008897Postnatal growth retardation
36 HP:0001642Pulmonic stenosis
37 HP:0002650Scoliosis
38 HP:0005484Secondary microcephaly
39 HP:0001250Seizure
40 HP:0000486Strabismus
41 HP:0001636Tetralogy of Fallot
42 HP:0000179Thick lower lip vermilion
43 HP:0000219Thin upper lip vermilion
44 HP:0001629Ventricular septal defect
45 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants