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encyclopedia of Rare Disease Annotation for Precision Medicine



   kabuki syndrome
  

Disease ID 69
Disease kabuki syndrome
Definition
A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.
Synonym
kabuk1
kabuki make up syndrome
kabuki make-up syndrome
kabuki make-up syndrome (disorder)
kabuki makeup syndrome
kabuki syndrome 1
niikawa-kuroki syndrome
Orphanet
OMIM
DOID
UMLS
C0796004
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:13)
C0152101  |  hypoplastic left heart  |  2
C0020598  |  hypoglycemia  |  2
C0152101  |  hypoplastic left heart syndrome  |  2
C0024437  |  macular dystrophy  |  1
C0010278  |  craniosynostosis  |  1
C0206624  |  hepatoblastoma  |  1
C0014544  |  epilepsy  |  1
C0017658  |  glomerulonephritis  |  1
C1535927  |  charge syndrome  |  1
C0014877  |  esotropia  |  1
C0017662  |  membranoproliferative glomerulonephritis  |  1
C0038379  |  strabismus  |  1
C0235618  |  proliferative glomerulonephritis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
7403  |  KDM6A  |  ORPHANET
8085  |  KMT2D  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
140733  |  MACROD2  |  UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
8085  |  KMT2D  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:101)
23597  |  ACOT9  |  5.191  |  DISEASES
257  |  ALX3  |  1.322  |  DISEASES
353  |  APRT  |  1.5  |  DISEASES
9070  |  ASH2L  |  3.683  |  DISEASES
438  |  ASMT  |  2.037  |  DISEASES
1822  |  ATN1  |  1.129  |  DISEASES
481  |  ATP1B1  |  2.332  |  DISEASES
64919  |  BCL11B  |  1.484  |  DISEASES
64115  |  C10orf54  |  1.049  |  DISEASES
79823  |  CAMKMT  |  1.749  |  DISEASES
875  |  CBS  |  1.689  |  DISEASES
9560  |  CCL4L2  |  1.195  |  DISEASES
930  |  CD19  |  1.627  |  DISEASES
11314  |  CD300A  |  4.117  |  DISEASES
1029  |  CDKN2A  |  1.692  |  DISEASES
3075  |  CFH  |  1.561  |  DISEASES
1429  |  CRYZ  |  1.108  |  DISEASES
10675  |  CSPG5  |  4.024  |  DISEASES
1491  |  CTH  |  1.112  |  DISEASES
1555  |  CYP2B6  |  1.361  |  DISEASES
1719  |  DHFR  |  2.287  |  DISEASES
80712  |  ESX1  |  1.347  |  DISEASES
83416  |  FCRL5  |  2.303  |  DISEASES
2242  |  FES  |  1.283  |  DISEASES
2246  |  FGF1  |  1.524  |  DISEASES
2261  |  FGFR3  |  3.29  |  DISEASES
344018  |  FIGLA  |  2.871  |  DISEASES
23767  |  FLRT3  |  2.738  |  DISEASES
5349  |  FXYD3  |  1.865  |  DISEASES
1647  |  GADD45A  |  1.652  |  DISEASES
9573  |  GDF3  |  1.892  |  DISEASES
2731  |  GLDC  |  1.872  |  DISEASES
132158  |  GLYCTK  |  3.404  |  DISEASES
2805  |  GOT1  |  1.864  |  DISEASES
54363  |  HAO1  |  1.674  |  DISEASES
10614  |  HEXIM1  |  2.032  |  DISEASES
3141  |  HLCS  |  1.641  |  DISEASES
3190  |  HNRNPK  |  2.266  |  DISEASES
100124700  |  HOTAIR  |  1.987  |  DISEASES
3570  |  IL6R  |  2.315  |  DISEASES
3660  |  IRF2  |  1.568  |  DISEASES
3662  |  IRF4  |  1.562  |  DISEASES
3664  |  IRF6  |  1.968  |  DISEASES
9445  |  ITM2B  |  2.014  |  DISEASES
152789  |  JAKMIP1  |  2.923  |  DISEASES
8242  |  KDM5C  |  1.774  |  DISEASES
7403  |  KDM6A  |  6.121  |  DISEASES
9314  |  KLF4  |  1.353  |  DISEASES
687  |  KLF9  |  1.87  |  DISEASES
54900  |  LAX1  |  1.88  |  DISEASES
4038  |  LRP4  |  1.725  |  DISEASES
126364  |  LRRC25  |  2.147  |  DISEASES
147719  |  LYPD4  |  2.458  |  DISEASES
256691  |  MAMDC2  |  3.267  |  DISEASES
84930  |  MASTL  |  2.362  |  DISEASES
4170  |  MCL1  |  1.646  |  DISEASES
90550  |  MCU  |  1.49  |  DISEASES
10873  |  ME3  |  2.733  |  DISEASES
83552  |  MFRP  |  2.479  |  DISEASES
8972  |  MGAM  |  1.173  |  DISEASES
25834  |  MGAT4C  |  1.336  |  DISEASES
51660  |  MPC1  |  3.953  |  DISEASES
57380  |  MRS2  |  1.592  |  DISEASES
4609  |  MYC  |  1.194  |  DISEASES
25915  |  NDUFAF3  |  3.352  |  DISEASES
11188  |  NISCH  |  2.676  |  DISEASES
4839  |  NOP2  |  3.633  |  DISEASES
23467  |  NPTXR  |  1.495  |  DISEASES
22978  |  NT5C2  |  1.683  |  DISEASES
22976  |  PAXIP1  |  2.391  |  DISEASES
103164619  |  PCAT2  |  1.816  |  DISEASES
9124  |  PDLIM1  |  1.166  |  DISEASES
100861550  |  PDX1-AS1  |  2.436  |  DISEASES
5174  |  PDZK1  |  1.867  |  DISEASES
11040  |  PIM2  |  2.945  |  DISEASES
5336  |  PLCG2  |  2.699  |  DISEASES
5366  |  PMAIP1  |  1.483  |  DISEASES
54496  |  PRMT7  |  2.727  |  DISEASES
5693  |  PSMB5  |  2.125  |  DISEASES
5813  |  PURA  |  1.921  |  DISEASES
5906  |  RAP1A  |  2.248  |  DISEASES
253260  |  RICTOR  |  1.091  |  DISEASES
23322  |  RPGRIP1L  |  1.621  |  DISEASES
286205  |  SCAI  |  1.61  |  DISEASES
9962  |  SLC23A2  |  1.971  |  DISEASES
23137  |  SMC5  |  2.722  |  DISEASES
677825  |  SNORA44  |  2.74  |  DISEASES
6658  |  SOX3  |  1.638  |  DISEASES
27286  |  SRPX2  |  1.257  |  DISEASES
51347  |  TAOK3  |  1.646  |  DISEASES
6917  |  TCEA1  |  1.879  |  DISEASES
80036  |  TRPM3  |  1.715  |  DISEASES
7278  |  TUBA3C  |  3.307  |  DISEASES
113457  |  TUBA3D  |  1.98  |  DISEASES
7322  |  UBE2D2  |  2.064  |  DISEASES
7323  |  UBE2D3  |  2.512  |  DISEASES
127933  |  UHMK1  |  3.047  |  DISEASES
7404  |  UTY  |  3.267  |  DISEASES
11091  |  WDR5  |  3.133  |  DISEASES
7503  |  XIST  |  3.662  |  DISEASES
23567  |  ZNF346  |  3.038  |  DISEASES
Locus
Symbol | Locus(Total Locus:4)
RAP1A  |  1p13.2
RAP1B  |  12q15
KMT2D  |  12q13.12
KDM6A  |  Xp11.3
Disease ID 69
Disease kabuki syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:63)
HP:0000639  |  Nystagmus
HP:0000028  |  Cryptorchidism
HP:0003316  |  Butterfly vertebrae
HP:0007655  |  Eversion of lateral third of lower eyelids
HP:0009237  |  Short 5th finger
HP:0010978  |  Abnormality of immune system physiology
HP:0002553  |  Highly arched eyebrow
HP:0000826  |  Precocious puberty
HP:0004322  |  Short stature
HP:0002119  |  Ventriculomegaly
HP:0000592  |  Blue sclerae
HP:0000776  |  Congenital diaphragmatic hernia
HP:0000527  |  Long eyelashes
HP:0000218  |  High palate
HP:0005338  |  Sparse lateral eyebrow
HP:0007477  |  Abnormal dermatoglyphics
HP:0000508  |  Ptosis
HP:0000074  |  Ureteropelvic junction obstruction
HP:0008736  |  Hypoplasia of penis
HP:0002937  |  Hemivertebrae
HP:0000047  |  Hypospadias
HP:0008678  |  Renal hypoplasia/aplasia
HP:0000126  |  Hydronephrosis
HP:0001680  |  Coarctation of aorta
HP:0000486  |  Strabismus
HP:0006482  |  Abnormality of dental morphology
HP:0005692  |  Joint hyperflexibility
HP:0000668  |  Hypodontia
HP:0000081  |  Duplicated collecting system
HP:0000164  |  Abnormality of the teeth
HP:0002120  |  Cerebral cortical atrophy
HP:0004736  |  Crossed fused renal ectopia
HP:0000407  |  Sensorineural hearing impairment
HP:0002719  |  Recurrent infections
HP:0000384  |  Preauricular skin tag
HP:0002000  |  Short columella
HP:0011968  |  Feeding difficulties
HP:0002353  |  EEG abnormality
HP:0001250  |  Seizures
HP:0000175  |  Cleft palate
HP:0000589  |  Coloboma
HP:0003312  |  Abnormal form of the vertebral bodies
HP:0000298  |  Mask-like facies
HP:0002650  |  Scoliosis
HP:0000252  |  Microcephaly
HP:0005819  |  Short middle phalanx of finger
HP:0001508  |  Failure to thrive
HP:0100267  |  Lip pit
HP:0200055  |  Small hand
HP:0000405  |  Conductive hearing impairment
HP:0000202  |  Oral cleft
HP:0000411  |  Protruding ear
HP:0000691  |  Microdontia
HP:0001513  |  Obesity
HP:0100542  |  Abnormal localization of kidney
HP:0002827  |  Hip dislocation
HP:0000400  |  Macrotia
HP:0000687  |  Widely spaced teeth
HP:0001252  |  Muscular hypotonia
HP:0000238  |  Hydrocephalus
HP:0001671  |  Abnormality of the cardiac septa
HP:0008428  |  Vertebral clefting
HP:0000482  |  Microcornea
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:18)
Disease ID 69
Disease kabuki syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:15)
C2240378  |  cleft palate
C1611280  |  allergy
C0741916  |  cardiac defects
C0239946  |  hepatic fibrosis
C0206624  |  hepatoblastoma
C0152101  |  hypoplastic left heart syndrome
C0078981  |  arachnoid cyst
C0043117  |  idiopathic thrombocytopenic purpura
C0037769  |  west syndrome
C0033377  |  ptosis
C0014877  |  esotropia
C0005411  |  biliary atresia
C0004364  |  autoimmune disorders
C0004352  |  autistic disorder
C0000889  |  acanthosis nigricans
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C0152101  |  hypoplastic left heart syndrome  |  2
C0014877  |  esotropia  |  1
C0741916  |  cardiac defects  |  1
C0206624  |  hepatoblastoma  |  1
C0002111  |  allergy  |  1
Manually Genotype(Total Manually Genotypes:2)
Gene Mutation DOI Article Title
KMT2DChr12:g.49423183C>T, heterozygous;NM_003482.3, NP_003473.3;c.14075+1G>Adoi:10.1038/gim.2016.1A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
KMT2D(MLL2)IVS31:c.8047-15C>T (Benign); Ex31:c.6836G>A / p.Gly2279E (Benign)doi:10.1038/gim.2015.30Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:114)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs183347186NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249027234GA
rs267607237NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026430CT
rs267607238NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022301GA
rs267607239NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022332GA
rs267607240NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249030985TA
rs35584294NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249040288-A
rs398123699NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249034178ACACAGACGTGACTTGCG
rs398123700NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249034067CT
rs398123701NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033886GA
rs398123702NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033871GA
rs398123704NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033556GA
rs398123706NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033503CA-
rs398123708NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033013GA
rs398123711NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032299GA
rs398123712NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032275GA
rs398123715NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249052382-G
rs398123716NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249031673G-
rs398123720NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249027865-A
rs398123721NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249027256GA
rs398123722NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026935-T
rs398123723NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026862CG
rs398123724NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026824GA
rs398123729NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026325CT
rs398123732NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249024674AATA-
rs398123733NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022819C-
rs398123735NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022606TTCTCCCGCCGGTTGGCG
rs398123741NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050056GA
rs398123743NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249049742GCCTCCGCTGATA-
rs398123744NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249048065AT-
rs398123750NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249042880TC
rs398123751NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249042283GGGCTGTC-
rs398123753NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249041175A-
rs398123757NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249040704GA
rs398123758NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249040630C-
rs556669370NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249041974GA,T
rs574622908NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249046358GT
rs587778449NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249051407GGCTCCTCAGGCCGGGGGGACAGGTGC-
rs587783681NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033442GA
rs587783682NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033415GA
rs587783683NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249033319G-
rs587783685NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032113GA
rs587783686NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249031809C-
rs587783687NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249031748TC-
rs587783688NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249031743GT
rs587783689NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249052351AGGT-
rs587783690NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249031255GA
rs587783691NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249031187G-
rs587783692NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249030958GA
rs587783693NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249030282CT-
rs587783695NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026905GA
rs587783696NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026771CT
rs587783697NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249024940CT
rs587783698NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249024887GA
rs587783699NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249024687GA
rs587783700NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022281TA
rs587783702NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022151CA
rs587783703NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022123AGTT-
rs587783704NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022073GAT-
rs587783705NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249051870CA
rs587783708NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249054672CA
rs587783711NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050467GA
rs587783712NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050035GA
rs587783713NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249049893G-
rs587783714NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249054527CG
rs587783715NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249047980G-
rs587783718NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249046422CT
rs587783719NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249045922G-
rs587783723NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249042112G-
rs587783725NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249041096TCCCC-
rs587783727NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249039611GA
rs587783728NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249039489GCTGG-
rs587783729NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249038613GA
rs727503979NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026710GA
rs727503983NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249038868GA
rs727503986NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249049116CA
rs727503987NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249049834GA
rs727503988NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050885CT
rs727503989NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249051868CT-
rs727503990NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249054943T-
rs756471180NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249048032-C
rs793888511NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032017GA
rs793888512NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249037395GA
rs793888513NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249027307CA
rs793888514NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026728CATT-
rs793888515NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022152CG
rs793888516NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032892TGCTGCTGTTGCTGCTGT-
rs794727143NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249046762CT
rs794727342NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249044257TA
rs794727379NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249043679C-
rs794727420NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249042846GA
rs794727497NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249054753TGTGGACACAC-
rs794727548NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249040394GA-
rs794727549NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249039867GA
rs794727610NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032766T-
rs794727611NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032224C-
rs794727689NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026794C-
rs794727752NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249022279CA
rs796065328NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050005-G
rs797044630NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050935CGGGATGGCTCAGCT
rs797044740NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249030659-C
rs797044744NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249027080-T
rs797045001NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249046792TG
rs797045658NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249032860GA
rs797045659NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249026887GA
rs797045660NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050633-A
rs797045661NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249054625C-
rs797045662NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249050002-T
rs797045663NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249049997G-
rs797045667NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249044504-C
rs797045668NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249041928-T
rs797045669NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249041928C-
rs797045670NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249053478-C
rs797045671NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249038880-TGCTGTTGCCTGTTGTTGCTGCCACAGTTGT
rs797045672NA8085KMT2Dumls:C0796004CLINVARNA0.489424521NAKMT2D1249037816A-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:25)
HP ID HP Name MP ID MP Name Annotation
HP:0000687Widely spaced teethMP:0004033supernumerary teethoccurrence of more than the usual number of teeth
HP:0000384Preauricular skin tagMP:0001786skin edemaaccumulation of an excessive amount of fluid in the skin layers or just underneath the skin
HP:0000776Congenital diaphragmatic herniaMP:0010146umbilical herniaan outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0001508Failure to thriveMP:0013294prenatal lethality prior to heart atrial septationdeath prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0010978Abnormality of immune system physiologyMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0005819Short middle phalanx of fingerMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000202Oral cleftMP:0009890cleft secondary palatecongenital fissure of the tissues normally uniting to form the secondary palate
HP:0000218High palateMP:0011615submucous cleft palatea cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate
HP:0000405Conductive hearing impairmentMP:0006325impaired hearingreduced ability to perceive auditory stimuli
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0006482Abnormality of dental morphologyMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0003312Abnormal form of the vertebral bodiesMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001680Coarctation of aortaMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000175Cleft palateMP:0013550abnormal secondary palate morphology
HP:0001671Abnormality of the cardiac septaMP:0012167abnormal epigenetic regulation of gene expressionany anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0100542Abnormal localization of kidneyMP:0009657failure of chorioallantoic fusionfailure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0000407Sensorineural hearing impairmentMP:0006330syndromic hearing impairmenthearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0004736Crossed fused renal ectopiaMP:0003446renal hypoplasiaunderdevelopment or reduced size of the kidney, usually due to a reduced number of cells
HP:0000074Ureteropelvic junction obstructionMP:0003270intestinal obstructionany impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus
HP:0000081Duplicated collecting systemMP:0002396abnormal hematopoietic system morphology/developmentany structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells
HP:0000411Protruding earMP:0005105abnormal middle ear ossicle morphologyany structural anomaly of the three small bones of the middle ear
HP:0007655Eversion of lateral third of lower eyelidsMP:0004251failure of heart loopingfailure of the primitive heart tube to loop asymmetrically during early development
HP:0002120Cerebral cortical atrophyMP:0012506brain atrophyacquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0000164Abnormality of the teethMP:0010382abnormal dosage compensation, by inactivation of X chromosomeanomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
HP:0008736Hypoplasia of penisMP:0013283failure of ventral body wall closurefailure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
Mapped by homologous gene(Total Items:63)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000411Protruding earMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002000Short columellaMP:0014117increased pancreatic beta cell apoptosisincrease in the number of pancreatic beta cells undergoing programmed cell death
HP:0100267Lip pitMP:0013818abnormal oral cavity morphologyany structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth
HP:0200055Small handMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000508PtosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000164Abnormality of the teethMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002120Cerebral cortical atrophyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000486StrabismusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0002119VentriculomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000592Blue scleraeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000687Widely spaced teethMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0009237Short 5th fingerMP:0013781abnormal mammary gland luminal epithelium morphologyany structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0005338Sparse lateral eyebrowMP:0014175abnormal ciliary epithelium morphologyany structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l
HP:0007655Eversion of lateral third of lower eyelidsMP:0013239impaired skeletal muscle regenerationreduced ability to repair skeletal muscle after injury or disease
HP:0001680Coarctation of aortaMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000238HydrocephalusMP:0020080increased bone mineralizationincrease in the rate at which minerals are deposited into bone
HP:0000081Duplicated collecting systemMP:0014040increased cellular sensitivity to DNA damaging agentsgreater incidence of cell death following exposure to agents that cause DNA damage
HP:0007477Abnormal dermatoglyphicsMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0000047HypospadiasMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000407Sensorineural hearing impairmentMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000776Congenital diaphragmatic herniaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000482MicrocorneaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002553Highly arched eyebrowMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000126HydronephrosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001508Failure to thriveMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0011968Feeding difficultiesMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000028CryptorchidismMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002827Hip dislocationMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000384Preauricular skin tagMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000298Mask-like faciesMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004736Crossed fused renal ectopiaMP:0013239impaired skeletal muscle regenerationreduced ability to repair skeletal muscle after injury or disease
HP:0005819Short middle phalanx of fingerMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0003316Butterfly vertebraeMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002937HemivertebraeMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0008428Vertebral cleftingMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000405Conductive hearing impairmentMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001513ObesityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000826Precocious pubertyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000175Cleft palateMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000589ColobomaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000074Ureteropelvic junction obstructionMP:0013901absent female preputial glandabsence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti
HP:0000218High palateMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0008678Renal hypoplasia/aplasiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000639NystagmusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003312Abnormal form of the vertebral bodiesMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000691MicrodontiaMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001671Abnormality of the cardiac septaMP:0013901absent female preputial glandabsence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti
HP:0010978Abnormality of immune system physiologyMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000202Oral cleftMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0002719Recurrent infectionsMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0008736Hypoplasia of penisMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0100542Abnormal localization of kidneyMP:0013901absent female preputial glandabsence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti
HP:0000400MacrotiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005692Joint hyperflexibilityMP:0012125decreased bronchoconstrictive responsereduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0000668HypodontiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000527Long eyelashesMP:0013956decreased colon lengthreduced length of the portion of the large intestine between the cecum and the rectum
HP:0000252MicrocephalyMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0006482Abnormality of dental morphologyMP:0014176abnormal cilary zonule morphologyany structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment
Disease ID 69
Disease kabuki syndrome
Case(Waiting for update.)