Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
expand
Abnormality of the nail (HP:0001597)help
..Starting node
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Aplasia/Hypoplasia of the nails (HP:0008386)help
Term ID: 8386
Name: Aplasia/Hypoplasia of the nails
Synonym: Absent/hypoplastic nails; Absent/small nails; Absent/underdeveloped nails; Nail aplasia/hypoplasia
Definition: Aplasia or developmental hypoplasia of the nail.
Comments:
Reference: HP:0008386
Genes and Diseases:
 
       Child Nodes:
........expandSmall nail (HP:0001792) help
................... HP:0001800 Hypoplastic toenails
................... HP:0001804 Hypoplastic fingernail
........expandAnonychia (HP:0001798) help
................... HP:0001802 Absent toenail
................... HP:0001817 Absent fingernail
........expandShort nail (HP:0001799) help
........expandAplastic/hypoplastic toenail (HP:0010624) help
................... HP:0001800 Hypoplastic toenails
................... HP:0001802 Absent toenail

 Sister Nodes: 
..expandAbnormal fingernail morphology (HP:0001231) help
..expandAbnormal nail growth (HP:0030807) help
..expandAbnormal toenail morphology (HP:0008388) help
..expandAbnormality of nail color (HP:0100643) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the subungual region (HP:0009723) help
..expandAbsent lunula (HP:0030805) help
..expandBeaked nails (HP:0030817) help
..expandChronic monilial nail infection (HP:0008396) help
..expandFragile nails (HP:0001808) help
..expandIngrown nail (HP:0012710) help
..expandNail bed hemorrhage (HP:0030254) help
..expandNail bed telangiectasia (HP:0001232) help
..expandNail dysplasia (HP:0002164) help
..expandNail dystrophy (HP:0008404) help
..expandNeoplasm of the nail (HP:0100826) help
..expandOnychogryposis (HP:0001805) help
..expandOnycholysis (HP:0001806) help
..expandPterygium of nails (HP:0002165) help
..expandPyramidal skinfold extending from the base to the top of the nails (HP:0009758) help
..expandRagged cuticle (HP:0030808) help
..expandRecurrent loss of toenails and fingernails (HP:0008390) help
..expandSki jump nail (HP:0030819) help
..expandThin nail (HP:0001816) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001799Short nail1FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001792Small nail1FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001798Anonychia1FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001792Small nail1FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001798Anonychia1FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001799Short nail1FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001799Short nail1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001798Anonychia1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0001792Small nail1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0001798Anonychia1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001792Small nail1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001799Short nail1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001792Small nail1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001798Anonychia1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001799Short nail1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001799Short nail1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001798Anonychia1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001792Small nail1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001792Small nail1VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001798Anonychia1VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0010624Aplastic/hypoplastic toenail1VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001799Short nail1VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001799Short nail1VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0010624Aplastic/hypoplastic toenail1VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001792Small nail1VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001798Anonychia1VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001802Absent toenail2FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001804Hypoplastic fingernail2FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001817Absent fingernail2FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001800Hypoplastic toenails2FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001800Hypoplastic toenails2FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0001802Absent toenail2FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001804Hypoplastic fingernail2FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001817Absent fingernail2FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0001804Hypoplastic fingernail2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001817Absent fingernail2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001802Absent toenail2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001800Hypoplastic toenails2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0001800Hypoplastic toenails2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0001804Hypoplastic fingernail2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0001817Absent fingernail2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0001802Absent toenail2FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0001800Hypoplastic toenails2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001804Hypoplastic fingernail2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001817Absent fingernail2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001802Absent toenail2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001804Hypoplastic fingernail2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001817Absent fingernail2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001802Absent toenail2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0001800Hypoplastic toenails2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0001800Hypoplastic toenails2VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001802Absent toenail2VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001804Hypoplastic fingernail2VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001817Absent fingernail2VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0001802Absent toenail2VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001804Hypoplastic fingernail2VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001817Absent fingernail2VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0001800Hypoplastic toenails2VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0012553Hypoplastic thumbnail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0033975Absent second fingernail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0012555Absent nail of hallux3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0011937Hypoplastic fifth toenail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0008398Hypoplastic fifth fingernail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0200104Absent fifth fingernail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0012554Absent thumbnail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0200105Absent fifth toenail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0200104Absent fifth fingernail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0012554Absent thumbnail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0200105Absent fifth toenail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0008398Hypoplastic fifth fingernail3FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0008386HP:0012553Hypoplastic thumbnail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0033975Absent second fingernail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0012555Absent nail of hallux3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0011937Hypoplastic fifth toenail3FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0008386HP:0011937Hypoplastic fifth toenail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0012553Hypoplastic thumbnail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0033975Absent second fingernail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0012555Absent nail of hallux3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0008398Hypoplastic fifth fingernail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0200104Absent fifth fingernail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0012554Absent thumbnail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0200105Absent fifth toenail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0008398Hypoplastic fifth fingernail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0200104Absent fifth fingernail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0012554Absent thumbnail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0200105Absent fifth toenail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0008386HP:0011937Hypoplastic fifth toenail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0012553Hypoplastic thumbnail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0033975Absent second fingernail3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0012555Absent nail of hallux3FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0008386HP:0008398Hypoplastic fifth fingernail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0200104Absent fifth fingernail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0012554Absent thumbnail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0200105Absent fifth toenail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0012553Hypoplastic thumbnail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0033975Absent second fingernail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0012555Absent nail of hallux3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0011937Hypoplastic fifth toenail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0012553Hypoplastic thumbnail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0033975Absent second fingernail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0012555Absent nail of hallux3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0011937Hypoplastic fifth toenail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1637866602991
HP:0008386HP:0008398Hypoplastic fifth fingernail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0200104Absent fifth fingernail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0012554Absent thumbnail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0200105Absent fifth toenail3NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM1827866602991
HP:0008386HP:0012554Absent thumbnail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0200105Absent fifth toenail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0008398Hypoplastic fifth fingernail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0200104Absent fifth fingernail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0033975Absent second fingernail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0012555Absent nail of hallux3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0011937Hypoplastic fifth toenail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0012553Hypoplastic thumbnail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0012555Absent nail of hallux3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0011937Hypoplastic fifth toenail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0012553Hypoplastic thumbnail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0033975Absent second fingernail3VAC14 CL E G H556973472MeningococcemiaORPHA111825507604632
HP:0008386HP:0012554Absent thumbnail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0200105Absent fifth toenail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0008398Hypoplastic fifth fingernail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
HP:0008386HP:0200104Absent fifth fingernail3VAC14 CL E G H556973472MeningococcemiaORPHA116225507604632
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (156) :ACTG2 ADAMTSL2 ALG3 ALOX12B ALOXE3 APC ARHGAP31 ARID1A ARID1B ARID2 ATP6V0A2 ATP6V1B2 B3GALT6 BAZ1B BCR BHLHA9 BMPER C15ORF41 CCDC22 CDH1 CKAP2L CLIP2 COL11A1 COL11A2 COL17A1 COL2A1 COL7A1 CPT2 CRKL CTC1 CWC27 DKC1 DLL4 DNAJC21 DOCK6 DPF2 DPH1 DSP DYNC2LI1 EED ELN EOGT ERCC2 EVC EVC2 EZH2 FGFR1 FGFR2 FIG4 FLNB FTO GDF5 GJB2 GJB6 GLI1 GPC3 GPC4 GRHL2 GTF2I GTF2IRD1 HOXA13 HRAS HYMAI IFT122 IFT43 IHH IKBKG INPPL1 ITGA6 ITGB4 JUP KCNH1 KDM1A KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB3 LAMC2 LBR LIG4 LIMK1 LMNA LMX1B LRP4 MAPK1 MBTPS2 MCTP2 MLXIPL MMP1 MPLKIP MSX1 NECTIN4 NHP2 NOG NOP10 NOTCH1 NOTCH2 NPR2 NSD1 NSUN2 OFD1 PARN PIGA PIGN PIGV PLAGL1 PLEC POC1A POLR3A POP1 PORCN PPM1D PPP1CB PTDSS1 RBPJ RFC2 RIPK4 RLIM ROR2 RPS6KA3 RSPO1 RSPO4 RTEL1 SHANK3 SHOC2 SHOX SLC25A24 SLC35D1 SMARCA4 SMARCAD1 SMARCB1 SMARCE1 SOX11 STAMBP SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TERC TERT TFAP2A TINF2 TP63 USB1 VAC14 WASHC5 WDR73 WNT10A WNT7A WRAP53 ZBTB20 ZMPSTE24

Diseases (136) :3472 216340 611377 2604 231050 601110 242100 100300 974 614607 278250 124480 271640 607539 615631 119580 3255 79402 166011 1775 250410 617052 614219 158687 609638 617561 194050 601675 193530 123790 503 150250 612938 228900 129500 373 312870 616029 218330 614099 63446 226730 135500 2309 1662 275210 161200 1596 234050 189500 224230 186500 102500 602875 117550 300209 300868 239300 614813 264090 617396 617450 263650 300978 113000 610644 206800 240 612289 384 181600 614261 220500 106260 129400 251300 257980 224750 276820 3042 3258 79499 3473 904 261330 608022 7 2021 228520 79408 158676 608836 616589 616901 289 3447 615297 952 166250 477 3071 96191 464 3144 616728 215140 235 2614 2273 2228 613573 140908 2059 280633 257 305600 2701 2658 1234 93383 192 48652 606232 616938 79500 3138 238578 2753 113620 228930 1465 135900 618027 2438 611816 615866
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.