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Details
Link-It Detail - Human Phenotype - Abnormality of connective tissue
Debug Stats
  • ### Total Build Time: 55 ms 30.008 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 207 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=4 ms Completed: 4 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 443 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 4.883 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.158 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=42 ms Completed: 42 ms rowSize= 22.161 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of connective tissue HP:0003549
Parents (1)
img Phenotypic abnormality HP:0000118
Children (15)
img Cellulitis due to immunodeficiency HP:0003553
img Hypoplasia of lymphatic vessels HP:0003759
img Abnormal tendon morphology HP:0100261
img Abnormality of mast cells HP:0100494
img Increased connective tissue HP:0009025
img Cellulitis HP:0100658
img Connective tissue nevi HP:0100898
img Edema HP:0000969
img Hernia HP:0100790
img Abnormality of adipose tissue HP:0009124
img Abnormality of the fascia HP:0100536
img Abnormality of Sharpey fibers HP:0100685
img Flexion contracture HP:0001371
img Congenital mesoblastic nephroma HP:0100881
img Scarring HP:0100699
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001183img Phenotypic abnormality HP:0000118
Genes (741)

Species:
human : 741
Page Size
Current 25
  Page 1 of 30
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOPHLC101290499Omphalocele due to duplication of 1p31.3
img HP RolledUp, OMIM ID: 310980
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanNMLFS100885786Nablus mask-like facial syndrome
HumanCATMANS100862706Catel-Manzke syndrome
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanKONDS100653373Kondoh syndrome
HumanLCR-OPSIN100534624
img HP RolledUp, OMIM ID: 303700
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
HumanDEL1Q41Q42100529242Chromosome 1q41-q42 deletion syndrome
img HP RolledUp, OMIM ID: 612530
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanDEL6Q11Q14100529221Chromosome 6q11-q14 deletion syndrome
img HP RolledUp, OMIM ID: 613544
HumanDER22T11-22100529146
img HP RolledUp, OMIM ID: 609029
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP RolledUp, OMIM ID: 600383
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanDUPXQ28100415893Chromosome Xq28 duplication syndrome
img HP RolledUp, OMIM ID: 300815
HumanCAMPD1100381210Camptodactyly 1
img HP RolledUp, OMIM ID: 114200
HumanDUP17P13.3100379203
img HP RolledUp, OMIM ID: 613215
HumanSPG45100322879spastic paraplegia 45 (autosomal recessive)
img HP RolledUp, OMIM ID: 613162
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003549Abnormality of connective tissue0self