ABNORMALITY OF THE BREAST, HP:0000769

This is a cluster of phenotypes following the categories of HPO


It has 117 associated diseases.

Show diseases

Associated diseases: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, FRASER SYNDROME, ALSTROM SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, ?CHARGE SYNDROME, CHARGE SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, FOCAL DERMAL HYPOPLASIA, CHIME SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PRIMROSE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUCOLIPIDOSIS II ALPHA/BETA, ?HYPERPROLACTINEMIA, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, PETERS-PLUS SYNDROME, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, CARPENTER SYNDROME 2, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, ADULT SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BOHRING-OPITZ SYNDROME, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COWDEN SYNDROME 2, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MOWAT-WILSON SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CRANIOFRONTONASAL DYSPLASIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PEUTZ-JEGHERS SYNDROME, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, YUNIS-VARON SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MARTSOLF SYNDROME, LIMB-MAMMARY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, KOOLEN-DE VRIES SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), JOHANSON-BLIZZARD SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AROMATASE EXCESS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, GAPO SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MEIER-GORLIN SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, MEIER-GORLIN SYNDROME 2, ABLEPHARON-MACROSTOMIA SYNDROME, COWDEN SYNDROME 6, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, LI-FRAUMENI SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MEIER-GORLIN SYNDROME 4, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, BARBER-SAY SYNDROME, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, ESCOBAR SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, MUIR-TORRE SYNDROME, COWDEN SYNDROME 5, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CPT II DEFICIENCY, LETHAL NEONATAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], SIALURIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME



It has 145 associated genes.

Show genes

Associated genes: BRCA2, KMT2A, CPT2, ACOX1, SEMA3E, IKBKG, PIK3CA, B3GLCT, SEPT9, LEP, CDH1, TSG101, ZEB2, STK11, ZBTB20, FAM175A, IBA57, ERCC6, GNPTAB, CDT1, NBN, SOS1, PIGL, ERCC2, GNE, CHRNG, CTNNB1, FIG4, WNT7A, GRIP1, FREM2, KRAS, NIPBL, FOXL2, TFAP2A, AR, ALMS1, ANOS1, GNAS, NOTCH1, GNRHR, PIGT, PPM1D, MLH1, FGFR1, EDA, SDHB, TAF6, ALG11, AKT2, POC1A, MEGF8, CBL, NTHL1, SLC25A46, HSD17B3, BCPR, ICK, RAD54L, RAD51, DHODH, KCTD1, ABCD4, TBX3, CYP21A2, TP63, PMM2, ARHGAP31, ORC4, GPC3, SETBP1, UBE2A, TWIST2, RAB3GAP2, OPCML, CUL4B, TMCO1, ORC6, UBR1, CHD7, TUBB, BRCA1, AKT1, RIPK4, KANSL1, AIP, SMS, PARK2, HDAC8, TP53, BRIP1, RB1CC1, HNRNPK, EZH2, TWIST1, KISS1R, XRCC3, EFNB1, PTEN, FGFR3, ANTXR1, AMER1, KDM6A, RBM28, HMMR, COX7B, ABCC11, CHST3, BARD1, LHB, CHEK2, ASXL1, CYP19A1, PHF6, RFT1, ATM, MAPRE2, RRAS2, CDKN2A, NQO2, PRLR, ORC1, INSR, MASP1, FRAS1, MSH2, FGFR2, PACS1, ITGA3, EDARADD, PHB, OFD1, RAB40AL, DPAGT1, APC, PTPRF, COL4A3BP, ATR, ESR1, CASP8, CYP17A1, KIF1BP, PORCN, PALB2, SLC22A18



GO terms for Biological Process
--> -->
 
 
<type 'exceptions.TypeError'>
Python 2.7.9: /usr/bin/python
Mon Jun 8 17:38:16 2020

A problem occurred in a Python script. Here is the sequence of function calls leading up to the error, in the order they occurred.

 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in ()
    307         print '<p> This is a cluster of phenotypes following the categories of HPO </p>'
    308         initial_description(cla,HPOid2mim,HPOid2gene)
=>  309         myGO_BP,myGO_MF,myGO_CC=main_program(cla,name,HPOid2gene[cla],HPOid2mim[cla],True)
    310         create_metadata(cla,name,HPOid2gene[cla],HPOid2mim[cla],myGO_BP,myGO_MF,myGO_CC)
    311     elif cla=="HP:0000001":
myGO_BP = set([]), myGO_MF = set([]), myGO_CC = set([]), main_program = <function main_program>, cla = 'HP:0000769', name = 'ABNORMALITY_OF_THE_BREAST', HPOid2gene = {'HP:0000001': set(['A2M', 'A4GALT', 'AAAS', 'AAGAB', 'AARS', 'AARS2', ...]), 'HP:0000002': set(['AAAS', 'AARS', 'AASS', 'ABAT', 'ABCB11', 'ACAN', ...]), 'HP:0000003': set(['AMER1', 'B9D1', 'KAT6B', 'MBTPS2', 'OFD1', 'PAX2', ...]), 'HP:0000005': set(['A2M', 'A4GALT', 'AAAS', 'AAGAB', 'AARS', 'AARS2', ...]), 'HP:0000006': set(['A2M', 'A4GALT', 'AAGAB', 'AARS', 'ABCA1', 'ABCA4', ...]), 'HP:0000007': set(['AAAS', 'AARS', 'AARS2', 'AASS', 'ABAT', 'ABCA1', ...]), 'HP:0000008': set(['AARS2', 'AGPAT2', 'AIP', 'AIRE', 'AKT1', 'APC', ...]), 'HP:0000009': set(['ABCD1', 'ACTG2', 'ADH1C', 'AFF4', 'ALDH18A1', 'ALS2', ...]), 'HP:0000010': set(['BTK', 'CFI', 'CIITA', 'CLDN16', 'CLDN19', 'FLVCR1', ...]), 'HP:0000011': set(['ARNT2', 'GBE1', 'GJA1', 'MNX1', 'VANGL1', 'WFS1']), ...}, HPOid2mim = {'HP:0000001': set(['100070', '100100', '100300', '100800', '101000', '101200', ...]), 'HP:0000002': set(['100800', '101400', '101800', '102370', '102500', '103580', ...]), 'HP:0000003': set(['107480', '120330', '143400', '300209', '300373', '308205', ...]), 'HP:0000005': set(['100100', '100300', '100800', '101000', '101200', '101400', ...]), 'HP:0000006': set(['100300', '100800', '101000', '101200', '101400', '101600', ...]), 'HP:0000007': set(['100100', '100300', '102530', '102700', '103050', '105400', ...]), 'HP:0000008': set(['101200', '107480', '109400', '110100', '114500', '119500', ...]), 'HP:0000009': set(['105210', '107480', '109150', '113650', '118450', '120330', ...]), 'HP:0000010': set(['176450', '209920', '220100', '236730', '248190', '248250', ...]), 'HP:0000011': set(['164200', '176450', '222300', '263570', '600145', '615926']), ...}, builtin True = True
 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in main_program(cla='HP:0000769', name='ABNORMALITY_OF_THE_BREAST', gene_set=set(['ABCC11', 'ABCD4', 'ACOX1', 'AIP', 'AKT1', 'AKT2', ...]), mim_set=set(['100300', '101400', '102200', '103285', '106260', '110100', ...]), HPO=True)
    190         else:
    191             myresult=main_table_printer(cla,name,"allclass2BP_NETGE",gene_set,"GOBP",mim_set,gene2mim_mapped,gene2chrom,root_GOBP_set)
=>  192             summary_shared_other_pages("GO terms for Biological Process",myresult,cla,"GOBP",name)
    193             myresult=main_table_printer(cla,name,"allclass2MF_NETGE",gene_set,"GOMF",mim_set,gene2mim_mapped,gene2chrom,root_GOMF_set)
    194             summary_shared_other_pages("GO terms for Molecular Function",myresult,cla,"GOMF",name)
global summary_shared_other_pages = <function summary_shared_other_pages>, myresult = ('<table id=allclass2BP_NETGE class="display"> <th...e=PACS1">PACS1</a></p></td></tr></tbody> </table>', set(['GO:0000075', 'GO:0000077', 'GO:0000079', 'GO:0000122', 'GO:0000165', 'GO:0000186', ...])), cla = 'HP:0000769', name = 'ABNORMALITY_OF_THE_BREAST'
 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in summary_shared_other_pages(titlename='GO terms for Biological Process', content=('<table id=allclass2BP_NETGE class="display"> <th...e=PACS1">PACS1</a></p></td></tr></tbody> </table>', set(['GO:0000075', 'GO:0000077', 'GO:0000079', 'GO:0000122', 'GO:0000165', 'GO:0000186', ...])), phen='HP:0000769', onto_name='GOBP', cla_name='ABNORMALITY_OF_THE_BREAST')
    110         myfile.write("<h1>"+ " ".join(cla_name.split("_")) +"</h1>")             
    111 
=>  112         myfile.write(content)   
    113         myfile.write('</body><footer><p>Contact information: giulia.babbi3@unibo.it <a style="float:right"> <!-- Release 12-05-2017 --> </a></p></footer></html>')
    114 
myfile = <open file '/var/www/phenpath/class_static/HP:0000769_GOBP_static.html', mode 'w'>, myfile.write = <built-in method write of file object>, content = ('<table id=allclass2BP_NETGE class="display"> <th...e=PACS1">PACS1</a></p></td></tr></tbody> </table>', set(['GO:0000075', 'GO:0000077', 'GO:0000079', 'GO:0000122', 'GO:0000165', 'GO:0000186', ...]))

<type 'exceptions.TypeError'>: expected a character buffer object
      args = ('expected a character buffer object',)
      message = 'expected a character buffer object'