Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the integument (HP:0001574)help
..Starting node
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Abnormality of skin adnexa physiology (HP:0025276)help
Term ID: 25276
Name: Abnormality of skin adnexa physiology
Synonym:
Definition: Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Comments:
Reference: HP:0025276
Genes and Diseases:
 
       Child Nodes:
........expandAnhidrosis (HP:0000970) help
........expandIpsilateral lack of facial sweating (HP:0007451) help
........expandGeneralized anhidrosis (HP:0007459) help
........expandHypohidrosis or hyperhidrosis (HP:0007550) help
................... HP:0000966 Hypohidrosis
................... HP:0000975 Hyperhidrosis
........expandGustatory sweating (HP:0025277) help
........expandCold-induced sweating (HP:0025278) help

 Sister Nodes: 
..expandAbnormality of platysma (HP:3000013) help
..expandAbnormality of skin adnexa morphology (HP:0011138) help
..expandAbnormality of the skin (HP:0000951) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025276HP:0025276Abnormality of skin adnexa physiology0 CL E G H
HP:0025276HP:0007451Ipsilateral lack of facial sweating1 CL E G H
HP:0025276HP:0007459Generalized anhidrosis1 CL E G H
HP:0025276HP:0025278Cold-induced sweating1 CL E G H
HP:0025276HP:0007550Hypohidrosis or hyperhidrosis1 CL E G H
HP:0025276HP:0000970Anhidrosis1 CL E G H
HP:0025276HP:0025277Gustatory sweating1 CL E G H
HP:0025276HP:0000975Hyperhidrosis2 CL E G H
HP:0025276HP:0000966Hypohidrosis2 CL E G H
HP:0025276HP:0001069Episodic hyperhidrosis3 CL E G H
HP:0025276HP:0034012Palmoplantar hypohidrosis3 CL E G H
HP:0025276HP:0007480Decreased sweating due to autonomic dysfunction3 CL E G H
HP:0025276HP:0006089Palmar hyperhidrosis3 CL E G H
HP:0025276HP:0007410Palmoplantar hyperhidrosis4 CL E G H


Genes (182) :ABCA12 ABCC8 AGPAT2 AIP ALOX12B ALOXE3 ALX4 ARNT2 ARX ASCL1 BCL10 BCS1L BIRC3 BLM BSCL2 CACNA1S CASK CAV1 CAVIN1 CDH23 CERS3 CLCF1 CLDN10 COG6 COL11A1 COL17A1 COL6A1 COL6A2 COL6A3 CRLF1 CTC1 CTNS CTSB CUL4B DDC DKC1 DSG1 DST EDA EDA2R EDAR EDARADD EDN3 ELOVL4 ELP1 ERCC6 ERCC8 FAM111B FGFR1 FGFR3 FH FLRT1 FOS FOXP1 FUCA1 GABRA3 GDNF GHR GJB2 GJB6 GLA GMPPA GPR101 HESX1 HEXB HINT1 HLA-B HMBS HNF1A HNF4A HPGD IGH IGHMBP2 IKBKG IL12B ITGB4 ITPR2 JAK2 JUP KCNA1 KCNJ11 KCNJ18 KCTD1 KDF1 KIF1A KIF1B KLC2 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT9 LAMA3 LAMB3 LAMC2 LIFR LMNA LMNB1 MALT1 MAP2K1 MAP2K2 MAX MBTPS2 MDH2 MEN1 MLX MPL NECTIN1 NFKBIA NGF NGLY1 NHP2 NIPAL4 NLRC4 NLRP3 NOP10 NTRK1 OTX2 PARN PHOX2B PLAA PNPLA1 POLA1 PPARG PRDM12 PRNP PROKR2 PSMB8 PTPN22 RET RETREG1 RIPK4 ROGDI RSPO1 RTEL1 SCN11A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SERPINB7 SHANK3 SLC13A5 SLC18A2 SLCO2A1 SLURP1 SMARCAD1 SOX10 SOX2 SOX3 SPR SPTLC2 ST14 STIM1 STS SUCLG1 TAT TERC TERT TGM1 THPO TINF2 TMEM127 TP53 TP63 TRAF6 TRIP4 TRPV3 TSPEAR UCP2 USB1 VHL WNK1 WNT10A WRAP53 ZFHX2 ZMPSTE24

Diseases (158) :262000 305100 224900 614940 614941 133540 216400 230000 106190 201300 125595 659 612132 64752 608654 615273 256800 243000 613640 106260 79394 276575 528 963 242100 606545 613451 3157 452 209880 52417 125 79102 300749 91347 610313 1545 617671 614576 615328 560 254090 272430 1775 219800 50943 85293 608643 305000 148700 614653 181 129490 1810 248 1955 1764 615704 15 320406 349 633 477 148210 301500 324 615510 268800 324442 137200 3287 79276 324575 263455 2796 259100 604320 464 71493 34217 37612 276580 2036 617337 970 171300 609541 2199 79400 79399 161000 2309 615726 3206 740 99027 615279 615280 2273 308205 97279 3253 612281 47045 2151 521426 617527 301220 616488 600072 2615 397 1401 1946 615548 133020 115310 605373 168000 140966 48652 606232 352649 87503 248300 1658 163746 609136 70594 602400 612783 461 281090 245400 28378 1501 69085 1071 1896 603543 129400 616866 614594 618180 276556 892 257980 147430 226650 223900 29072 169500 613115 79406 148370 167210 610644 615598
 

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