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Details
Link-It Detail - Human Phenotype - Abnormality of the diaphragm
Debug Stats
  • ### Total Build Time: 55 ms 34.312 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 203 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=9 ms Completed: 9 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.423 KB
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 3.339 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.896 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 23.289 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the diaphragm HP:0000775
Parents (4)
img Abnormality of the abdomen HP:0001438
img Abnormality of the respiratory system HP:0002086
img Abnormal respiratory system morphology HP:0012252
img Abnormality of the thorax HP:0000765
Children (10)
img Congenital diaphragmatic hernia HP:0000776
img Aplasia/Hypoplasia of the diaphragm HP:0010315
img Absent left hemidiaphragm HP:0009112
img Recurrent singultus HP:0100247
img Diminished diaphragmatic motion HP:0005953
img Extrapulmonary sequestrum HP:0006544
img Diaphragmatic eventration HP:0009110
img Denervation of the diaphragm HP:0009109
img Diaphragmatic paralysis HP:0006597
img Diaphragmatic weakness HP:0009113
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the abdomen HP:0001438
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the respiratory system HP:0002086
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal respiratory system morphology HP:0012252
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the thorax HP:0000765
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the thorax HP:0000765
Genes (75)

Species:
human : 75
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL1Q41Q42100529242Chromosome 1q41-q42 deletion syndrome
img HP RolledUp, OMIM ID: 612530
HumanDER22T11-22100529146
img HP RolledUp, OMIM ID: 609029
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
HumanAUTS14100187724autism, susceptibility to, 14
img HP RolledUp, OMIM ID: 611913
HumanDIH2780899Hernia, congenital diaphragmatic 2
img HP RolledUp, OMIM ID: 222400
HumanACF387569Asymmetric crying facies (Cayler cardiofacial syndrome)
img HP RolledUp, OMIM ID: 125520
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanSMAR246751Spinal muscular atrophy, chronic distal, autosomal recessive
img HP RolledUp, OMIM ID: 607088
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanDIS3L2129563DIS3 mitotic control homolog (S. cerevisiae)-like 2
img HP RolledUp, OMIM ID: 267000
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211500
img HP RolledUp, OMIM ID: 211530
HumanMEGF1084466multiple EGF-like-domains 10
img HP RolledUp, OMIM ID: 614399
HumanSLC2A1081031solute carrier family 2 (facilitated glucose transporter), member 10
img HP RolledUp, OMIM ID: 208050
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 130650
HumanSTRA664220stimulated by retinoic acid 6
img HP RolledUp, OMIM ID: 601186
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 181405
HumanMDC1B53368Muscular dystrophy, congenital, 1B
img HP IEA, OMIM ID: 604801
HumanEFEMP230008EGF containing fibulin-like extracellular matrix protein 2
img HP RolledUp, OMIM ID: 614437
img HP RolledUp, OMIM ID: 219100
HumanB3GAT326229beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
img HP RolledUp, OMIM ID: 245600
HumanNIPBL25836Nipped-B homolog (Drosophila)
img HP RolledUp, OMIM ID: 122470
HumanZFPM223414zinc finger protein, FOG family member 2
img HP RolledUp, OMIM ID: 610187
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img HP RolledUp, OMIM ID: 130650
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000775Abnormality of the diaphragm0self