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Details
Link-It Detail - Disease - Genetic Diseases, Inborn
Debug Stats
  • ### Total Build Time: 127 ms 55.002 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 376 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 599 bytes
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 19.562 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.193 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 13.040 KB
  • CONCEPT_GENES gt=86 ms Completed: 86 ms rowSize= 18.548 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Genetic Diseases, Inborn C0950123
Definition (1)
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612
Children (45)
img Camurati-Engelmann Syndrome C0011989
img Werner Syndrome C0043119
img Cystic Fibrosis C0010674
img Muscular Dystrophies C0026850
img Neoplastic Syndromes, Hereditary C0027672
img Chromosome Disorders C0008626
img Metabolism, Inborn Errors C0025521
img Pain Insensitivity, Congenital C0002768
img Alagille Syndrome C0085280
img Hereditary Autoinflammatory Diseases C0751422
img Anemia, Hypoplastic, Congenital C0949116
img Frasier Syndrome C0950122
img Pelger-Huet Anomaly C0030779
img Kallmann Syndrome C0162809
img Myasthenic Syndromes, Congenital C0751882
img Skin Diseases, Genetic C0037277
img Donohue Syndrome C0265344
img Angioedemas, Hereditary C0019243
img Marfan Syndrome C0024796
img Yellow Nail Syndrome C0221348
img CADASIL C0751587
img Genetic Diseases, X-Linked C1138434
img Eye Diseases, Hereditary C0015398
img Hemoglobinopathies C0019045
img Cardiomyopathy, Hypertrophic, Familial C0949658
img Adrenal Hyperplasia, Congenital C0001627
img Costello Syndrome C0587248
img Loeys-Dietz Syndrome C2697932
img Cherubism C0008029
img Kartagener Syndrome C0022521
img alpha 1-Antitrypsin Deficiency C0221757
img Nail-Patella Syndrome C0027341
img Polycystic Kidney, Autosomal Recessive C0085548
img Ataxia Telangiectasia C0004135
img Weill-Marchesani Syndrome C0265313
img Heredodegenerative Disorders, Nervous System C0751870
img Brugada Syndrome C1142166
img Anemia, Hemolytic, Congenital C0002881
img Dwarfism C0013336
img Osteogenesis Imperfecta C0029434
img Hyperthyroxinemia, Familial Dysalbuminemic C0342185
img Blood Coagulation Disorders, Inherited C0852077
img Hajdu-Cheney Syndrome C0917715
img Autoimmune Lymphoproliferative Syndrome C1328840
img Genetic Diseases, Y-Linked C1563751
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C00276122img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612
Relationships (95)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 12
diso_​to_​diso : 33
diso_​to_​gene : 11
diso_​to_​phen : 5
diso_​to_​phys : 30


Relationships:
none : 92
entry_​version_​of : 1
mapped_​to : 2
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN788img genetic aspects C0017399
DISO_to_PHEN720img genetic aspects C0017399
DISO_to_PHYS92img GENET PREDISPOSITION C0314657
DISO_to_PHYS71img GENET PREDISPOSITION C0314657
DISO_to_PHYS70img Mutation C0026882
DISO_to_PHYS60img Mutation C0026882
DISO_to_GENE54img Genome, Human C0017429
DISO_to_GENE44img Genome, Human C0017429
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_PHYS34img Missense Mutation C0599155
DISO_to_GENE33img Polymorphism, Single Nucleotide C0752046
DISO_to_PHEN33img Genetic Variation C0042333
DISO_to_GENE32img Polymorphism, Single Nucleotide C0752046
DISO_to_DISO31img Neoplasms C0027651
DISO_to_ANAT28img In Blood C0005768
DISO_to_DISO25img Neoplasms C0027651
DISO_to_CHEM22img DNA C0012854
DISO_to_DISO22img Congenital Abnormalities C0000768
DISO_to_DISO21img Chromosome Aberrations C0008625
DISO_to_DISO20img Congenital Abnormalities C0000768
DISO_to_DISO20img DISORDER FETAL C0015929
DISO_to_DISO19img Animal Disease Models C0012644
DISO_to_DISO19img Consanguinity C0009789
DISO_to_DISO18img Disease, Rare C0678236
Genes (1494)

Species:
human : 1494
Page Size
Current 25
  Page 1 of 60
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanFASA100192455fertility associated sperm antigen
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanPABPC1P2728773poly(A) binding protein, cytoplasmic 1 pseudogene 2
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanSPANXB1728695SPANX family, member B1
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanRP33692221
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanZNF674641339zinc finger protein 674
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanFRG2448831FSHD region gene 2
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanPALM2-AKAP2445815
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanCCL3L3414062chemokine (C-C motif) ligand 3-like 3
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanIYD389434iodotyrosine deiodinase
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanKRTAP5-1387264
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanNPSR1387129neuropeptide S receptor 1
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanIL31386653interleukin 31
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanMRX82378484mental retardation, X-linked 82
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanTRIM74378108tripartite motif containing 74
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanAGRN375790agrin
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanCERKL375298ceramide kinase-like
INFERRED, Score=800, UMLKSK CUI: C0950123
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0950123
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0950123Genetic Diseases, Inborn0self