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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   von willebrand disease
  

Disease ID 81
Disease von willebrand disease
Definition
hemophilioid disorder due to deficiency of Von Willebrand factor and thus of Factor VIII complex.
Synonym
angiohaemophilia
angiohemophilia
angiohemophilia, a
angiohemophilia, b
angiohemophilias
constitutional thrombopathy
disease von willebrand
disease von willebrands
diseases von willebrand's
disorder, von willebrand
factor viii deficiency with vascular defect
hemophilia, vascular
pseudohaemophilia type b
pseudohemophilia
pseudohemophilia type b
pseudohemophilia, vascular
pseudohemophilias, vascular
vascular haemophilia
vascular hemophilia
vascular hemophilias
vascular pseudohemophilia
vascular pseudohemophilias
von willebrand
von willebrand dis
von willebrand disease (disorder)
von willebrand disease, nos
von willebrand diseases
von willebrand diseases [disease/finding]
von willebrand disorder
von willebrand disorder (disorder)
von willebrand's disease
von willebrand's disease (disorder)
von willebrand's diseases
von willebrand's factor deficiency
von willebrand's-jurgens' disease
von willebrand-j?rgens disease
von willebrand-jurgens disease
von willebrand-jürgens disease
von willebrands dis
von willebrands disease
vwd - von willebrand's disease
willebrand-juergens disease
Orphanet
DOID
ICD10
UMLS
C0042974
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:68)
C1136085  |  monoclonal gammopathy  |  5
C0040053  |  thrombosis  |  4
C0020676  |  hypothyroidism  |  4
C0026470  |  monoclonal gammopathy of undetermined significance  |  4
C0003507  |  aortic stenosis  |  3
C0040015  |  glanzmann thrombasthenia  |  2
C0085411  |  angiodysplasia  |  2
C0002766  |  analgesia  |  2
C0087086  |  thrombi  |  2
C0011847  |  diabetes  |  2
C0011854  |  type 1 diabetes  |  2
C0018799  |  heart disease  |  2
C0024141  |  systemic lupus erythematosus  |  2
C0020538  |  hypertension  |  2
C0042974  |  von willebrand disease  |  2
C0003873  |  rheumatoid arthritis  |  2
C0004153  |  atherosclerosis  |  2
C0010068  |  coronary heart disease  |  2
C0409974  |  lupus erythematosus  |  2
C0002871  |  anemia  |  2
C0751931  |  femoral neuropathy  |  1
C0024419  |  waldenstrom macroglobulinaemia  |  1
C0442874  |  neuropathy  |  1
C1619734  |  pulmonary arterial hypertension  |  1
C0003864  |  arthritis  |  1
C0393819  |  chronic inflammatory demyelinating polyradiculoneuropathy  |  1
C0032587  |  polyradiculoneuropathy  |  1
C0836924  |  thrombocythemia  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0018801  |  heart failure  |  1
C0031157  |  peritonsillar abscess  |  1
C0024314  |  lymphoproliferative disorders  |  1
C0266526  |  norrie disease  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0030305  |  pancreatitis  |  1
C0043117  |  immune thrombocytopenic purpura  |  1
C0001815  |  myelofibrosis  |  1
C0019069  |  haemophilia  |  1
C0040028  |  essential thrombocythemia  |  1
C0836924  |  thrombocytosis  |  1
C0039103  |  synovitis  |  1
C0017205  |  gaucher disease  |  1
C0024419  |  macroglobulinaemia  |  1
C0040053  |  thrombus  |  1
C0010068  |  coronary artery disease  |  1
C0034155  |  thrombotic thrombocytopenic purpura  |  1
C0001339  |  acute pancreatitis  |  1
C0042345  |  varicose veins  |  1
C0021053  |  immune disease  |  1
C0026266  |  mitral regurgitation  |  1
C0003175  |  anthrax  |  1
C0040015  |  thrombasthenia  |  1
C0040028  |  essential thrombocythaemia  |  1
C0836924  |  thrombocythaemia  |  1
C0022408  |  arthropathy  |  1
C0002878  |  hemolytic anemia  |  1
C0040147  |  thyroiditis  |  1
C0677607  |  hashimoto's thyroiditis  |  1
C0162316  |  iron deficiency anemia  |  1
C0042345  |  varicose vein  |  1
C0024299  |  lymphoma  |  1
C0031099  |  periodontitis  |  1
C0029408  |  osteoarthritis  |  1
C0007097  |  epithelial carcinoma  |  1
C0085083  |  ovarian hyperstimulation syndrome  |  1
C0024419  |  waldenstrom macroglobulinemia  |  1
C0018916  |  hemangioma  |  1
C0040188  |  tic disorders  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
7450  |  VWF  |  CLINVAR;GHR;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:5)
2147  |  F2  |  CIPHER
2153  |  F5  |  CIPHER
3690  |  ITGB3  |  CIPHER
4524  |  MTHFR  |  CIPHER
7450  |  VWF  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:38)
11093  |  ADAMTS13  |  4.706  |  DISEASES
653145  |  ANXA8  |  1.171  |  DISEASES
728113  |  ANXA8L1  |  1.155  |  DISEASES
79969  |  ATAT1  |  7.256  |  DISEASES
489  |  ATP2A3  |  1.033  |  DISEASES
551  |  AVP  |  2.598  |  DISEASES
8618  |  CADPS  |  1.776  |  DISEASES
811  |  CALR  |  1.308  |  DISEASES
959  |  CD40LG  |  1.966  |  DISEASES
28514  |  DLL1  |  2.379  |  DISEASES
285193  |  DUSP28  |  3.293  |  DISEASES
2160  |  F11  |  4.584  |  DISEASES
2152  |  F3  |  5.071  |  DISEASES
2155  |  F7  |  4.841  |  DISEASES
2157  |  F8  |  7.768  |  DISEASES
2305  |  FOXM1  |  1.162  |  DISEASES
2811  |  GP1BA  |  5.55  |  DISEASES
2812  |  GP1BB  |  1.576  |  DISEASES
3211  |  HOXB1  |  1.086  |  DISEASES
3664  |  IRF6  |  2.634  |  DISEASES
50618  |  ITSN2  |  2.152  |  DISEASES
3717  |  JAK2  |  2.004  |  DISEASES
23218  |  NBEAL2  |  2.834  |  DISEASES
5164  |  PDK2  |  1.185  |  DISEASES
5900  |  RALGDS  |  1.703  |  DISEASES
286133  |  SCARA5  |  1.519  |  DISEASES
462  |  SERPINC1  |  2.255  |  DISEASES
5345  |  SERPINF2  |  1.46  |  DISEASES
23642  |  SNHG1  |  2.193  |  DISEASES
55576  |  STAB2  |  1.35  |  DISEASES
134957  |  STXBP5  |  3.177  |  DISEASES
6915  |  TBXA2R  |  2.151  |  DISEASES
123036  |  TC2N  |  3.191  |  DISEASES
26136  |  TES  |  1.052  |  DISEASES
7056  |  THBD  |  1.352  |  DISEASES
375346  |  TMEM110  |  4.576  |  DISEASES
26276  |  VPS33B  |  1.024  |  DISEASES
23038  |  WDTC1  |  4.528  |  DISEASES
Locus(Waiting for update.)
Disease ID 81
Disease von willebrand disease
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:6)
HP:0001633  |  Abnormality of the mitral valve
HP:0001928  |  Abnormality of coagulation
HP:0001872  |  Abnormality of thrombocytes
HP:0005293  |  Venous insufficiency
HP:0004097  |  Deviation of finger
HP:0011869  |  Abnormal platelet function
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:45)
HP:0000821  |  Underactive thyroid  |  4
HP:0001650  |  Valvular aortic stenosis  |  3
HP:0001370  |  Rheumatoid arthritis  |  2
HP:0001297  |  Cerebral vascular events  |  2
HP:0000132  |  Hypermenorrhea  |  2
HP:0001892  |  Bleeding diathesis  |  2
HP:0002725  |  Systemic lupus erythematosus  |  2
HP:0012531  |  Pain  |  2
HP:0000822  |  Hypertension  |  2
HP:0002621  |  Atherosclerosis  |  2
HP:0001903  |  Anemia  |  2
HP:0010885  |  Aseptic necrosis  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0002619  |  Varicose veins  |  1
HP:0004420  |  Arterial thrombosis  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0004936  |  Blood clot in vein  |  1
HP:0011974  |  Myelofibrosis  |  1
HP:0005261  |  Joint hemorrhage  |  1
HP:0030731  |  Carcinoma  |  1
HP:0001369  |  Arthritis  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0002665  |  Lymphoma  |  1
HP:0001937  |  Microangiopathic hemolytic anemia  |  1
HP:0001279  |  Syncope  |  1
HP:0000704  |  Pyorrhea  |  1
HP:0100033  |  Tic disorder  |  1
HP:0001028  |  Strawberry mark  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0002758  |  Osteoarthritis  |  1
HP:0003040  |  Arthropathy  |  1
HP:0100646  |  Thyroiditis  |  1
HP:0100769  |  Synovitis  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0005508  |  Waldenstrom macroglobulinemia  |  1
HP:0001894  |  Thrombocytosis  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0002315  |  Headaches  |  1
HP:0001653  |  Mitral valve insufficiency  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0001733  |  Pancreatic inflammation  |  1
Disease ID 81
Disease von willebrand disease
Manually Symptom
UMLS  | Name(Total Manually Symptoms:12)
C1521999  |  acute myocardial infarction
C0267373  |  intestinal bleeding
C0040038  |  thromboembolism
C0040034  |  thrombocytopenia
C0040028  |  essential thrombocythemia
C0035085  |  renal infarction
C0026267  |  mitral valve prolapse
C0019562  |  von hippel-lindau disease
C0019080  |  hemorrhage
C0019069  |  factor viii deficiency
C0018818  |  ventricular septal defect
C0015530  |  factor xiii deficiency
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0018944  |  hematoma  |  1
C0019080  |  hemorrhage  |  1
C0085411  |  angiodysplasia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:38)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121964895212644467450VWFumls:C0042974BeFreeIt was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous patients with VWD Vicenza (VWD-VI) carrying R1205H VWF mutation and 23 with C1130F mutation, both characterised by markedly increased VWF clearance.0.2496187452011VWF126021960CT,A
rs14669883716342272155F7umls:C0042974BeFreeA G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease.0.0008143261992F713113118584GA
rs1800383245812757450VWFumls:C0042974BeFreeNone of the patients with low VWF:RCo, decreased VWF:RCo/VWF:Ag ratio and p.D1472H had VWD type 2M mutations identified.0.2496187452014VWF126019004CG,A
rs216321151133837450VWFumls:C0042974BeFreeThe cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene.0.2496187452004VWF126034818TC
rs21632115812157450VWFumls:C0042974BeFreeA patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.0.2496187451992VWF126034818TC
rs267607324212644467450VWFumls:C0042974BeFreeIt was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous patients with VWD Vicenza (VWD-VI) carrying R1205H VWF mutation and 23 with C1130F mutation, both characterised by markedly increased VWF clearance.0.2496187452011VWF126022889CA
rs267607328123530707450VWFumls:C0042974BeFreeVon Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X).0.2496187452002VWF126022811GA
rs267607369166760677450VWFumls:C0042974BeFreeImpaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.0.2496187452006VWF;ANO2125949055GT
rs41276738NA7450VWFumls:C0042974CLINVARNA0.249618745NAVWF126034812CT
rs41276738151133837450VWFumls:C0042974BeFreeThe cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene.0.2496187452004VWF126034812CT
rs4127673815812157450VWFumls:C0042974BeFreeA patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.0.2496187451992VWF126034812CT
rs61748466123936987450VWFumls:C0042974BeFreeAn Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.0.2496187452003VWF126046726GA
rs61748482205869247450VWFumls:C0042974BeFreeHomozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.0.2496187452010VWF126034813GA
rs61749384170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019502GA
rs61749385202003507450VWFumls:C0042974BeFreeWe developed a mouse model to study phenotypic consequences of VWD-type 2B mutations in murine VWF: mVWF/R1306Q and mVWF/V1316M.0.2496187452010VWF126019501CT,A
rs61749388170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019495CT,G,A
rs61749393170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019478CG,A
rs61749395111595227450VWFumls:C0042974BeFreeThe arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.0.2496187452001VWF126019475GA
rs61749397202003507450VWFumls:C0042974BeFreeWe developed a mouse model to study phenotypic consequences of VWD-type 2B mutations in murine VWF: mVWF/R1306Q and mVWF/V1316M.0.2496187452010VWF126019472CT,G
rs61749399170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019447CG
rs61749407170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019343CT
rs61750067170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019333TG
rs61750070180643117450VWFumls:C0042974BeFreeA novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.0.2496187452007VWF126019303AC
rs61750072170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019297CT,A
rs61750083170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126019145TA
rs61750097152191977450VWFumls:C0042974BeFreeA novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers.0.2496187452004VWF126018910AT,G,C
rs61750580223719177450VWFumls:C0042974BeFreeWe describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A.0.2496187452012VWF126018593CT
rs61750588170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126018506CT
rs61750590170877287450VWFumls:C0042974BeFreeWe used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F).0.2496187452007VWF126018476GA
rs61750596199519691351COX8Aumls:C0042974BeFreeFactor VIII/von Willebrand factor concentrate was also required for two women with type 2 A von Willebrand's disease with V1665E mutations who had no von Willebrand factor activity change during pregnancy.0.0141149772010VWF126018424AT
rs61750630234463437450VWFumls:C0042974BeFreeVWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von Willebrand disease (VWD) homozygous for the C2362F mutation and a normal subject, were submitted to cleavage by recombinant ADAMTS13 under static conditions in the presence of urea.0.2496187452013VWF125981988CA
rs61750630166434497450VWFumls:C0042974BeFreeHomozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease.0.2496187452006VWF125981988CA
rs61750630106517437450VWFumls:C0042974BeFreeHeightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation.0.2496187452000VWF125981988CA
rs617506302344634311093ADAMTS13umls:C0042974BeFreeVWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von Willebrand disease (VWD) homozygous for the C2362F mutation and a normal subject, were submitted to cleavage by recombinant ADAMTS13 under static conditions in the presence of urea.0.004081562013VWF125981988CA
rs61750630171093877450VWFumls:C0042974BeFreeA novel null mutation (2908del C in exon 22) of the von Willebrand factor (VWF) gene was identified in compound heterozygosity with the missense mutation G7335T (C2362F) in exon 42 in a propositus from a new family with autosomal recessive von Willebrand disease (VWD).0.2496187452007VWF125981988CA
rs61751288123530707450VWFumls:C0042974BeFreeVon Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X).0.2496187452002VWF125976140GA
rs61753997108871197450VWFumls:C0042974BeFreeA novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.0.2496187452000VWF126075392GA
rs6175401097145297450VWFumls:C0042974BeFreeA new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease.0.2496187451998VWF126057995TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:4)
HP ID HP Name MP ID MP Name Annotation
HP:0004097Deviation of fingerMP:0008261arrest of male meiosiscessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
HP:0001633Abnormality of the mitral valveMP:0010919increased number of pulmonary neuroendocrine bodiesgreater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air
HP:0001872Abnormality of thrombocytesMP: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
HP:0001928Abnormality of coagulationMP: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:5)
HP ID HP Name MP ID MP Name Annotation
HP:0001928Abnormality of coagulationMP: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:0001633Abnormality of the mitral valveMP: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:0001872Abnormality of thrombocytesMP:0014071increased cardiac muscle glycogen levelgreater than the normal concentration of a readily converted carbohydrate reserve in heart muscle
HP:0005293Venous insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0004097Deviation of fingerMP:0013785abnormal mammary gland bud morphologyany structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva
Disease ID 81
Disease von willebrand disease
Case(Waiting for update.)