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encyclopedia of Rare Disease Annotation for Precision Medicine



   pendred syndrome
  

Disease ID 93
Disease pendred syndrome
Definition
Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. It is named after Dr Vaughan Pendred (1869–1946), the English doctor who first described the condition in an Irish family living in Durham in 1896.[1][2] It accounts for 7.5% of all cases of congenital deafness.[3] - Wikipedia
Reference: https://en.wikipedia.org/wiki/pendred syndrome
Synonym
autosomal recessive sensorineural hearing impairment and goiter
deafness with goiter
gdth iib
genetic defect in thyroid hormonogenesis ii b
goiter-deafness syndrome
goitre-deafness syndrome
hypothyroidism with sensorineural deafness
hypothyroidism, congenital, due to dyshormonogenesis, 2b
pds
pendred's syndrome
pendred's syndrome (disorder)
pendreds syndrome
tdh2b
thyroid dyshormonogenesis 2b
thyroid hormone organification defect ii b
thyroid hormonogenesis, genetic defect in, 2b
Orphanet
OMIM
UMLS
C0271829
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:8)
C0018021  |  goiter  |  2
C0007115  |  thyroid ca  |  1
C0018784  |  sensorineural hearing loss  |  1
C0005586  |  bipolar disorder  |  1
C0206682  |  follicular thyroid carcinoma  |  1
C0018021  |  goitre  |  1
C0018024  |  retrosternal goitre  |  1
C0549473  |  thyroid carcinoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
5730  |  PTGDS  |  OMIM
2299  |  FOXI1  |  CLINVAR;ORPHANET
5172  |  SLC26A4  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
3766  |  KCNJ10  |  ORPHANET
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5172  |  SLC26A4  |  CIPHER;CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:35)
55107  |  ANO1  |  1.122  |  DISEASES
79577  |  CDC73  |  1.026  |  DISEASES
1184  |  CLCN5  |  1.223  |  DISEASES
1287  |  COL4A5  |  1.018  |  DISEASES
1734  |  DIO2  |  2.41  |  DISEASES
1735  |  DIO3  |  1.972  |  DISEASES
50506  |  DUOX2  |  2.636  |  DISEASES
342184  |  FMN1  |  1.613  |  DISEASES
2304  |  FOXE1  |  3.113  |  DISEASES
2706  |  GJB2  |  4.906  |  DISEASES
3297  |  HSF1  |  1.762  |  DISEASES
3766  |  KCNJ10  |  4.867  |  DISEASES
348120  |  LINC01193  |  1.683  |  DISEASES
116372  |  LYPD1  |  3.496  |  DISEASES
4514  |  MT-CO3  |  1.24  |  DISEASES
4549  |  MT-RNR1  |  2.101  |  DISEASES
7080  |  NKX2-1  |  1.913  |  DISEASES
7849  |  PAX8  |  2.579  |  DISEASES
5456  |  POU3F4  |  1.709  |  DISEASES
6048  |  RNF5  |  2.957  |  DISEASES
862  |  RUNX1T1  |  1.002  |  DISEASES
6446  |  SGK1  |  1.048  |  DISEASES
10861  |  SLC26A1  |  3.81  |  DISEASES
284129  |  SLC26A11  |  4.593  |  DISEASES
1811  |  SLC26A3  |  4.492  |  DISEASES
65010  |  SLC26A6  |  4.594  |  DISEASES
116369  |  SLC26A8  |  5.038  |  DISEASES
115019  |  SLC26A9  |  3.717  |  DISEASES
6522  |  SLC4A2  |  2.59  |  DISEASES
160728  |  SLC5A8  |  3.69  |  DISEASES
100126781  |  SNAR-F  |  2.637  |  DISEASES
6975  |  TECTB  |  4.063  |  DISEASES
7068  |  THRB  |  1.035  |  DISEASES
7177  |  TPSAB1  |  2.61  |  DISEASES
55503  |  TRPV6  |  2.449  |  DISEASES
Locus
Symbol | Locus(Total Locus:3)
SLC26A4  |  7q22.3
FOXI1  |  5q35.1
KCNJ10  |  1q23.2
Disease ID 93
Disease pendred syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:22)
HP:0000843  |  Hyperparathyroidism
HP:0002777  |  Tracheal stenosis
HP:0011387  |  Enlarged vestibular aqueduct
HP:0000853  |  Goitre
HP:0001251  |  Ataxia
HP:0001939  |  Laboratory abnormality
HP:0002167  |  Neurological speech impairment
HP:0000112  |  Nephropathy
HP:0000359  |  Abnormality of the inner ear
HP:0000407  |  Sensorineural hearing impairment
HP:0008554  |  Cochlear malformation
HP:0001249  |  Mental retardation
HP:0008223  |  Compensated hypothyroidism
HP:0008586  |  Hypoplasia of the cochlea
HP:0002093  |  Respiratory insufficiency
HP:0001751  |  Vestibular dysfunction
HP:0001249  |  Intellectual disability
HP:0002890  |  Thyroid carcinoma
HP:0000853  |  Goiter
HP:0002321  |  Vertigo
HP:0008527  |  Hearing loss, congenital sensorineural
HP:0000821  |  Hypothyroidism
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:6)
HP:0000853  |  Goitre  |  3
HP:0000365  |  Hearing impairment  |  2
HP:0006731  |  Follicular thyroid carcinoma  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0002890  |  Thyroid carcinoma  |  1
Disease ID 93
Disease pendred syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:9)
C2186538  |  thyroid disease
C2029884  |  hearing loss
C1384666  |  hearing impairment
C0581883  |  deafness
C0549473  |  carcinoma thyroid
C0348024  |  thyroid dysfunction
C0339789  |  congenital deafness
C0027051  |  myocardial infarction
C0020676  |  hypothyroidism
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C1384666  |  hearing loss  |  1
C0011053  |  deafness  |  1
C1384666  |  hearing impairment  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:88)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894398224295115172SLC26A4umls:C0271829BeFreeSegregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.0.5950596092012GJB21320189443CA
rs104894398224295112706GJB2umls:C0271829BeFreeSegregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.0.0010857672012GJB21320189443CA
rs111033199NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107672245GT
rs111033200NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663301CA,G
rs111033212NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107689054TA,C
rs111033212113173565172SLC26A4umls:C0271829UNIPROTPendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.0.5950596092001SLC26A47107689054TA,C
rs111033220NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107690203CT
rs111033241NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663425CACGC-
rs111033244NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107690125AG
rs111033245NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683355GT
rs111033254NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107698085TC
rs111033256NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107675060TA
rs111033257NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107700162GA
rs111033257208262035172SLC26A4umls:C0271829BeFreeTherefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.0.5950596092010SLC26A47107700162GA
rs111033303NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107674970GT
rs111033305NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107690200GA,C
rs111033306NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694423TGC-
rs111033307NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694473TG
rs111033307208227485172SLC26A4umls:C0271829BeFreeA single Pendred syndrome (PDS) gene mutation, L445W, was found.0.5950596092010SLC26A47107694473TG
rs111033308NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107695984GA
rs111033309NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107702038GA
rs111033311NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694402GC
rs111033312NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107698112GA,C
rs111033313NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683453AG
rs111033314NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107689203AG,T
rs111033316NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107696036AG
rs111033317NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107698045-C
rs111033318NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107702050TA
rs111033348NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107674326CT
rs111033380NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107674337GA
rs111033400NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107672230TCA
rs111033407NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694622-AGTC
rs111033454NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683281GA
rs121908360NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107702023TG
rs121908361208262035172SLC26A4umls:C0271829BeFreeTherefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.0.5950596092010SLC26A47107689156AG
rs121908362101903315172SLC26A4umls:C0271829UNIPROTIn the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA.0.5950596091999SLC26A47107710132AG
rs121908362173225865172SLC26A4umls:C0271829BeFreeThe H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.0.5950596092006SLC26A47107710132AG
rs121908362114058735172SLC26A4umls:C0271829BeFreeWe report a case of Pendred syndrome in a 27-year-old woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation (His723Arg) in the PDS gene identified in a homozygous state.0.5950596092001SLC26A47107710132AG
rs121908362208262035172SLC26A4umls:C0271829BeFreeTherefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.0.5950596092010SLC26A47107710132AG
rs121908362NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107710132AG
rs121908363208262035172SLC26A4umls:C0271829BeFreeTherefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.0.5950596092010SLC26A47107710126CT
rs121908363NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107710126CT
rs121908364208262035172SLC26A4umls:C0271829BeFreeTherefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.0.5950596092010SLC26A47107689166CT
rs121908365NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107672230TA
rs121909341NA2299FOXI1umls:C0271829CLINVARNA0.320814326NAFOXI15170108274GA
rs145254330107004805172SLC26A4umls:C0271829UNIPROTEnlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.0.5950596092000SLC26A47107672182CT
rs146281367NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683537GA,C,T
rs200455203NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107701998GC
rs201562855208262035172SLC26A4umls:C0271829BeFreeTherefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.0.5950596092010SLC26A47107690148AT
rs28939086NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107690220AC
rs28939086182832495172SLC26A4umls:C0271829BeFreeIn EVAS and PS, two missense mutations are most frequently observed: L236P and T416P, as well as the mutation, regarding abnormal splicing process, i.e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations.0.5950596092008SLC26A47107690220AC
rs28939086155314805172SLC26A4umls:C0271829BeFreeIntrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.0.5950596092004SLC26A47107690220AC
rs28939086107004805172SLC26A4umls:C0271829UNIPROTEnlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.0.5950596092000SLC26A47107690220AC
rs368119540NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107701943GA,C
rs370588279NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663400CA,T
rs397516413NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107690172T-
rs397516414NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107690178GA
rs397516416NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694475CT
rs397516417NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694481G-
rs397516418NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107694718TG
rs397516420NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107661807TC
rs397516424NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107701986AG
rs397516427NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107710109GT
rs397516428NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107710152CT
rs397516432NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107675111TC
rs431905486NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683533-A
rs542620119NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107674302GC
rs727503428NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107698051GA
rs727503430NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107704386GA
rs727503431NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107710179CT
rs727505230NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107700181TC
rs746238617NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663437TC
rs752807925NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107704382CT
rs786204421NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663410T-
rs786204450NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107698044-C
rs786204458NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663294AG
rs786204474NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107689130CT
rs786204502NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107701942GA
rs786204504NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107661806G-
rs786204523NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107710091T-
rs786204581NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A4;SLC26A4-AS17107663366CT
rs786204600NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683326C-
rs786204601NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107696015T-
rs786204730NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107672198-T
rs786204739NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107698083TG
rs80338848NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107675051TC
rs80338848182832495172SLC26A4umls:C0271829BeFreeIn EVAS and PS, two missense mutations are most frequently observed: L236P and T416P, as well as the mutation, regarding abnormal splicing process, i.e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations.0.5950596092008SLC26A47107675051TC
rs80338849NA5172SLC26A4umls:C0271829CLINVARNA0.595059609NASLC26A47107683538GA,T
GWASdb Annotation(Total Genotypes:1)
Chr Pos SNP_Id RefGene EnsemblGene ENCODE_Factor ENCODE_TFBS Chromosome_interaction GTEx_eQTL SNP_TFBS_affinity_GWAS3D SNP_miRNA_target_affinity_PolymiRTS SNP_splicing_effect_Skippy SNP_splicing_effect_MutPred_Splice SNP_ns_protein_effect_dbNSFP SNP_syn_effect_Silva SNP_phosphorylation_effect_PhosSNP PhastCons_score PhyloP_score GERP++_RS Segway_state Ancestral_allele ESP_AF ESP_AFR ESP_AFR ESP_EUR TG_ASN TG_AMR TG_AFR TG_EUR Type Consequence bStatistic EncH3K27Ac EncH3K4Me1 EncH3K4Me3 EncNucleo OMIM Clinvar
9139873088rs56030643NM_000954,PTGDSENST00000224167,ENSG00000107317ENST00000457950,ENSG00000107317ENST00000371625,ENSG00000107317ENST00000371623,ENSG00000107317ENST00000471521,ENSG00000107317ENST00000446677,ENSG00000107317ENST00000460340,ENSG00000107317ENST00000492068,ENSG00000107317TFP.ZBTB7ATFP.EGR1TFP.IRF1NAchr9,139870001,139880000,chr11,5770001,5780000,25,Hi-Cchr9,139870001,139880000,chr9,140010001,140020000,28,Hi-Cchr9,139870001,139880000,chr9,140300001,140310000,32,Hi-Cchr9,139870001,139880000,chr1,1700001,1710000,5,Hi-Cchr9,139870001,139880000,chr9,140190001,140200000,7,Hi-Cchr9,139870001,139880000,chr9,134370001,134380000,18,Hi-Cchr9,139870001,139880000,chr9,117370001,117380000,7,Hi-Cchr9,139870001,139880000,chr9,140280001,140290000,7,Hi-CNALM9,3.0511REST,1.6612GKCGCNNNNNNNTGAYG,14.8375CAGNWMCNNNGAC,1.8116CCAAT-box,4.0581NANANANANANA0.6371.021
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0011387Enlarged vestibular aqueductMP:0009821abnormal vestibular aqueduct morphologyany structural anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone
HP:0000359Abnormality of the inner earMP: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:0008586Hypoplasia of the cochleaMP: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:0002890Thyroid carcinomaMP:0003331increased hepatocellular carcinoma incidencegreater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period
HP:0008527Congenital sensorineural hearing impairmentMP:0006330syndromic hearing impairmenthearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0001939Abnormality of metabolism/homeostasisMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
Mapped by homologous gene(Total Items:20)
HP ID HP Name MP ID MP Name Annotation
HP:0002167Neurological speech impairmentMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
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:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002890Thyroid carcinomaMP:0013618decreased areal bone mineral densityreduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c
HP:0008554Cochlear malformationMP:0014155absent olfactory epitheliumabsence of the epithelial cells that line the interior of the nose
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000112NephropathyMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0008586Hypoplasia of the cochleaMP:0014155absent olfactory epitheliumabsence of the epithelial cells that line the interior of the nose
HP:0002777Tracheal stenosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001939Abnormality of metabolism/homeostasisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000359Abnormality of the inner earMP:0014155absent olfactory epitheliumabsence of the epithelial cells that line the interior of the nose
HP:0001751Vestibular dysfunctionMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0000821HypothyroidismMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0000853GoiterMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0008527Congenital sensorineural hearing impairmentMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0002321VertigoMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0008223Compensated hypothyroidismMP: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:0000843HyperparathyroidismMP:0014167ectopic bonethe appearance of an extra bone structure at an atypical location
HP:0011387Enlarged vestibular aqueductMP:0014091abnormal tectorial membrane striated-sheet matrix morphologyany structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in paralle
Disease ID 93
Disease pendred syndrome
Case(Waiting for update.)