Kenmerk
Hair loss
Klinische naam: Alopecia
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Samenvatting
- Lichaamssysteem
- Abnormality of the integument
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Hair loss voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AHSGalpha 2-HS glycoprotein | Altijd | In 2 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| ATP7AATPase copper transporting alpha | Altijd | In 1 aandoening |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altijd | In 1 aandoening |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Altijd | In 2 aandoeningen |
| CLDN1claudin 1 | Altijd | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Altijd | In 2 aandoeningen |
| DCLRE1CDNA cross-link repair 1C | Altijd | In 2 aandoeningen |
| EDNRAendothelin receptor type A | Altijd | In 1 aandoening |
| FAM111BFAM111 trypsin like peptidase B | Altijd | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Altijd | In 2 aandoeningen |
| GJA1gap junction protein alpha 1 | Altijd | In 2 aandoeningen |
| HEPHL1hephaestin like 1 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KRT81keratin 81 | Altijd | In 1 aandoening |
| KRT83keratin 83 | Altijd | In 1 aandoening |
| KRT85keratin 85 | Altijd | In 1 aandoening |
| LSSlanosterol synthase | Altijd | In 3 aandoeningen |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altijd | In 1 aandoening |
| NECTIN4nectin cell adhesion molecule 4 | Altijd | In 1 aandoening |
| PLD4phospholipase D family member 4 | Altijd | In 1 aandoening |
| POLD3DNA polymerase delta 3, accessory subunit | Altijd | In 1 aandoening |
| RAG1recombination activating 1 | Altijd | In 2 aandoeningen |
| RAG2recombination activating 2 | Altijd | In 2 aandoeningen |
| RBM28RNA binding motif protein 28 | Altijd | In 2 aandoeningen |
| RIPK4receptor interacting serine/threonine kinase 4 | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| SASH1SAM and SH3 domain containing 1 | Altijd | In 1 aandoening |
| SLC30A2solute carrier family 30 member 2 | Altijd | In 1 aandoening |
| SREBF1sterol regulatory element binding transcription factor 1 | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TYMSthymidylate synthetase | Altijd | In 2 aandoeningen |
| ZPR1ZPR1 zinc finger | Altijd | In 1 aandoening |
| ADAadenosine deaminase | Heel vaak (80–99%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Heel vaak (80–99%) | In 1 aandoening |
| APCDD1APC down-regulated 1 | Heel vaak (80–99%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Heel vaak (80–99%) | In 1 aandoening |
| DSG4desmoglein 4 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 201 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| EPS8L3EPS8 signaling adaptor L3 | Heel vaak (80–99%) | In 2 aandoeningen |
| FTLferritin light chain | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DRAmajor histocompatibility complex, class II, DR alpha | Heel vaak (80–99%) | In 1 aandoening |
| HRHR lysine demethylase and nuclear receptor corepressor | Heel vaak (80–99%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| HTRA1HtrA serine peptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL2RGinterleukin 2 receptor subunit gamma | Heel vaak (80–99%) | In 1 aandoening |
| IL7Rinterleukin 7 receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| ITGB6integrin subunit beta 6 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| LIPHlipase H | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 4 aandoeningen |
| LPAR6lysophosphatidic acid receptor 6 | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| NUDCD3NudC domain containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| PLECplectin | Heel vaak (80–99%) | In 1 aandoening |
| PSMB10proteasome 20S subunit beta 10 | Heel vaak (80–99%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| RPL21ribosomal protein L21 | Heel vaak (80–99%) | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Heel vaak (80–99%) | In 1 aandoening |
| SNRPEsmall nuclear ribonucleoprotein polypeptide E | Heel vaak (80–99%) | In 1 aandoening |
| SOX18SRY-box transcription factor 18 | Heel vaak (80–99%) | In 3 aandoeningen |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Heel vaak (80–99%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Vaak (30–79%) | In 2 aandoeningen |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ACVR1activin A receptor type 1 | Vaak (30–79%) | In 2 aandoeningen |
| AIREautoimmune regulator | Vaak (30–79%) | In 2 aandoeningen |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Vaak (30–79%) | In 3 aandoeningen |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Vaak (30–79%) | In 3 aandoeningen |
| ASPRV1aspartic peptidase retroviral like 1 | Vaak (30–79%) | In 1 aandoening |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Vaak (30–79%) | In 1 aandoening |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| BTDbiotinidase | Vaak (30–79%) | In 2 aandoeningen |
| C4Acomplement C4A (Chido/Rodgers blood group) | Vaak (30–79%) | In 1 aandoening |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Vaak (30–79%) | In 1 aandoening |
| CASRcalcium sensing receptor | Vaak (30–79%) | In 1 aandoening |
| CD28CD28 molecule | Vaak (30–79%) | In 2 aandoeningen |
| CERS3ceramide synthase 3 | Vaak (30–79%) | In 1 aandoening |
| CR2complement C3d receptor 2 | Vaak (30–79%) | In 1 aandoening |
| CSTBcystatin B | Vaak (30–79%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Vaak (30–79%) | In 3 aandoeningen |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Vaak (30–79%) | In 1 aandoening |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DNASE1deoxyribonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| DOCK6dedicator of cytokinesis 6 | Vaak (30–79%) | In 2 aandoeningen |
| DSPdesmoplakin | Vaak (30–79%) | In 1 aandoening |
| EDARectodysplasin A receptor | Vaak (30–79%) | In 1 aandoening |
| EDARADDEDAR associated via death domain | Vaak (30–79%) | In 1 aandoening |
| ETS1ETS proto-oncogene 1, transcription factor | Vaak (30–79%) | In 1 aandoening |
| FCGR2AFc gamma receptor IIa | Vaak (30–79%) | In 1 aandoening |
| FCGR2BFc gamma receptor IIb | Vaak (30–79%) | In 2 aandoeningen |
| FCGR3BFc gamma receptor IIIb | Vaak (30–79%) | In 1 aandoening |
| FLNAfilamin A | Vaak (30–79%) | In 1 aandoening |
| GJB3gap junction protein beta 3 | Vaak (30–79%) | In 1 aandoening |
| GJB4gap junction protein beta 4 | Vaak (30–79%) | In 1 aandoening |
| GJB6gap junction protein beta 6 | Vaak (30–79%) | In 2 aandoeningen |
| GNA11G protein subunit alpha 11 | Vaak (30–79%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Vaak (30–79%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 4 aandoeningen |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Vaak (30–79%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Vaak (30–79%) | In 2 aandoeningen |
| IL10interleukin 10 | Vaak (30–79%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| IRF5interferon regulatory factor 5 | Vaak (30–79%) | In 1 aandoening |
| ITGAMintegrin subunit alpha M | Vaak (30–79%) | In 1 aandoening |
| JAZF1JAZF zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| KDSR3-ketodihydrosphingosine reductase | Vaak (30–79%) | In 1 aandoening |
| KIAA0319LKIAA0319 like | Vaak (30–79%) | In 1 aandoening |
| KLHL24kelch like family member 24 | Vaak (30–79%) | In 1 aandoening |
| KRT14keratin 14 | Vaak (30–79%) | In 2 aandoeningen |
| KRT5keratin 5 | Vaak (30–79%) | In 2 aandoeningen |
| LIPNlipase family member N | Vaak (30–79%) | In 1 aandoening |
| MANFmesencephalic astrocyte derived neurotrophic factor | Vaak (30–79%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Vaak (30–79%) | In 1 aandoening |
| NFKB2nuclear factor kappa B subunit 2 | Vaak (30–79%) | In 1 aandoening |
| NIPAL4NIPA like domain containing 4 | Vaak (30–79%) | In 2 aandoeningen |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 2 aandoeningen |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| PDCD1programmed cell death 1 | Vaak (30–79%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Vaak (30–79%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| PRKCDprotein kinase C delta | Vaak (30–79%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Vaak (30–79%) | In 3 aandoeningen |
| PXKPX domain containing serine/threonine kinase like | Vaak (30–79%) | In 1 aandoening |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Vaak (30–79%) | In 2 aandoeningen |
| SPINK5serine peptidase inhibitor Kazal type 5 | Vaak (30–79%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Vaak (30–79%) | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Vaak (30–79%) | In 2 aandoeningen |
| SULT2B1sulfotransferase family 2B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| TGM1transglutaminase 1 | Vaak (30–79%) | In 4 aandoeningen |
| TLR7toll like receptor 7 | Vaak (30–79%) | In 2 aandoeningen |
| TNFAIP3TNF alpha induced protein 3 | Vaak (30–79%) | In 1 aandoening |
| TNFRSF1BTNF receptor superfamily member 1B | Vaak (30–79%) | In 2 aandoeningen |
| TNFSF4TNF superfamily member 4 | Vaak (30–79%) | In 1 aandoening |
| TNIP1TNFAIP3 interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| TP63tumor protein p63 | Vaak (30–79%) | In 2 aandoeningen |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Vaak (30–79%) | In 1 aandoening |
| VDRvitamin D receptor | Vaak (30–79%) | In 1 aandoening |
| WNT10AWnt family member 10A | Vaak (30–79%) | In 2 aandoeningen |
| ZMPSTE24zinc metallopeptidase STE24 | Vaak (30–79%) | In 2 aandoeningen |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Soms (5–29%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Soms (5–29%) | In 1 aandoening |
| ARHGAP31Rho GTPase activating protein 31 | Soms (5–29%) | In 2 aandoeningen |
| ARMC5armadillo repeat containing 5 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BTKBruton tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Soms (5–29%) | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Soms (5–29%) | In 2 aandoeningen |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Soms (5–29%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Soms (5–29%) | In 2 aandoeningen |
| DLL4delta like canonical Notch ligand 4 | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Soms (5–29%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FOXP3forkhead box P3 | Soms (5–29%) | In 2 aandoeningen |
| FZD2frizzled class receptor 2 | Soms (5–29%) | In 1 aandoening |
| GJB2gap junction protein beta 2 | Soms (5–29%) | In 1 aandoening |
| GNASGNAS complex locus | Soms (5–29%) | In 1 aandoening |
| H6PDhexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | Soms (5–29%) | In 1 aandoening |
| HLCSholocarboxylase synthetase | Soms (5–29%) | In 2 aandoeningen |
| HRURFHR upstream open reading frame | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Soms (5–29%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| LAMB3laminin subunit beta 3 | Soms (5–29%) | In 1 aandoening |
| LAMC2laminin subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| LEF1lymphoid enhancer binding factor 1 | Soms (5–29%) | In 1 aandoening |
| LORICRINloricrin cornified envelope precursor protein | Soms (5–29%) | In 1 aandoening |
| MGPmatrix Gla protein | Soms (5–29%) | In 1 aandoening |
| MOGSmannosyl-oligosaccharide glucosidase | Soms (5–29%) | In 1 aandoening |
| NFKB1nuclear factor kappa B subunit 1 | Soms (5–29%) | In 1 aandoening |
| NHP2NHP2 ribonucleoprotein | Soms (5–29%) | In 1 aandoening |
| NOP10NOP10 ribonucleoprotein | Soms (5–29%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Soms (5–29%) | In 1 aandoening |
| NPM1nucleophosmin 1 | Soms (5–29%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Soms (5–29%) | In 1 aandoening |
| NXNnucleoredoxin | Soms (5–29%) | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| PARNpoly(A)-specific ribonuclease | Soms (5–29%) | In 2 aandoeningen |
| PERPp53 apoptosis effector related to PMP22 | Soms (5–29%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Soms (5–29%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Soms (5–29%) | In 1 aandoening |
| RTEL1regulator of telomere elongation helicase 1 | Soms (5–29%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Soms (5–29%) | In 1 aandoening |
| STAT5Bsignal transducer and activator of transcription 5B | Soms (5–29%) | In 1 aandoening |
| TERCtelomerase RNA component | Soms (5–29%) | In 2 aandoeningen |
| TERTtelomerase reverse transcriptase | Soms (5–29%) | In 2 aandoeningen |
| TINF2TERF1 interacting nuclear factor 2 | Soms (5–29%) | In 3 aandoeningen |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Soms (5–29%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| WNT5AWnt family member 5A | Soms (5–29%) | In 1 aandoening |
| WRAP53WD repeat containing antisense to TP53 | Soms (5–29%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Zelden (1–4%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| KRT16keratin 16 | Zelden (1–4%) | In 1 aandoening |
| KRT17keratin 17 | Zelden (1–4%) | In 1 aandoening |
| KRT6Akeratin 6A | Zelden (1–4%) | In 1 aandoening |
| KRT6Bkeratin 6B | Zelden (1–4%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Zelden (1–4%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Zelden (1–4%) | In 1 aandoening |
| TMPRSS6transmembrane serine protease 6 | Zelden (1–4%) | In 1 aandoening |
| ZNF341zinc finger protein 341 | Zelden (1–4%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Niet vastgelegd | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Niet vastgelegd | In 1 aandoening |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| ATRATR checkpoint kinase | Niet vastgelegd | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Niet vastgelegd | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| FOXN1forkhead box N1 | Niet vastgelegd | In 1 aandoening |
| HFEhomeostatic iron regulator | Niet vastgelegd | In 1 aandoening |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| KRT74keratin 74 | Niet vastgelegd | In 1 aandoening |
| KRT86keratin 86 | Niet vastgelegd | In 1 aandoening |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Niet vastgelegd | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Niet vastgelegd | In 1 aandoening |
| SLITRK1SLIT and NTRK like family member 1 | Niet vastgelegd | In 1 aandoening |
| URODuroporphyrinogen decarboxylase | Niet vastgelegd | In 1 aandoening |
| UROSuroporphyrinogen III synthase | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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