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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Acquired abnormal hair pattern
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Accession:HP:0011360 term browser browse the term
Definition:An abnormality of the distribution of hair growth that is acquired during the course of life.
Synonyms:xref: UMLS:C4023399


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Acquired abnormal hair pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist severity IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 RGD PMID:8077705 RGD:6909137 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
Atrophic, patchy alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:251393 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:251393 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
Early balding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
Frontal balding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 IAGP HPO ORPHA:1942 NCBI chr 3:184,174,855...184,184,091
Ensembl chr 3:184,174,689...184,184,214 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP HPO ORPHA:1942 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO OMIM:602668 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G DMPK DM1 protein kinase IAGP HPO OMIM:160900 NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO OMIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO OMIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO ORPHA:1942 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:786 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO ORPHA:93945 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:1942 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:1942 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP HPO ORPHA:1942 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:1942 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Patchy alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G DSG4 desmoglein 4 IAGP HPO ORPHA:573 NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ECM1 extracellular matrix protein 1 IAGP HPO OMIM:247100 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO OMIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor IAGP HPO ORPHA:701 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO OMIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO OMIM:300534 ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KRT81 keratin 81 IAGP HPO ORPHA:573 NCBI chr12:52,285,913...52,308,624
Ensembl chr12:52,285,913...52,291,534 		JBrowse link
G KRT83 keratin 83 IAGP HPO ORPHA:573 NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398 		JBrowse link
G KRT86 keratin 86 IAGP HPO ORPHA:573 NCBI chr12:52,274,645...52,309,163
Ensembl chr12:52,249,300...52,309,163 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO OMIM:226650 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G NECTIN4 nectin cell adhesion molecule 4 IAGP HPO OMIM:613573 NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558 		JBrowse link
G PADI3 peptidyl arginine deiminase 3 IAGP HPO ORPHA:1410 NCBI chr 1:17,249,098...17,284,233
Ensembl chr 1:17,249,098...17,284,233 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G TGM3 transglutaminase 3 IAGP HPO ORPHA:1410 NCBI chr20:2,296,001...2,341,079
Ensembl chr20:2,296,001...2,341,079 		JBrowse link
G TP63 tumor protein p63 IAGP HPO OMIM:106260 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRAC T cell receptor alpha constant IAGP HPO OMIM:615387 NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: Alopecia areata ClinVar PMID:11112658 PMID:18946009 PMID:24502542 PMID:25741868 PMID:25792522 More... NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the integument 2755
        Abnormal skin adnexa morphology 1520
          Abnormal hair morphology 1350
            Abnormal hair pattern 366
              Acquired abnormal hair pattern 45
                Early balding 2
                Frontal balding 16
                Patchy alopecia + 26
                Tufted hairs 0
paths to the root