Disease #02139 (AIS (syndrome, insensitivity, androgen (AIS)), OMIM:300068)

Official abbreviation AIS
Name syndrome, insensitivity, androgen (AIS)
OMIM ID 300068
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 588
Phenotype entries for this disease 588
Associated with 1 gene AR
Associated tissues -
Disease features -
Remarks -


Individuals

588 entries on 6 pages. Showing entries 1 - 100.
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00081081 - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - AIS Androgen insensitivity (OMIM:300068) AR AR 1 1 Daniel Trujillano
00115532 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115533 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115534 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115535 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115546 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115547 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115550 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115553 - - sex of rearing F; mother heterozygous rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 2 Bruce Gottlieb
00115555 - - sex of rearing F rF - - - - 0 - - AIS elevated testosterone, no WD development; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115556 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115558 - - sex of rearing ? - - - - - 0 - - AIS androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115559 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115560 - - sex of rearing F; affected sibling rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115563 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115569 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115571 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 4 1 Bruce Gottlieb
00115575 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115576 - - sex of rearing F rF - - - - 0 - - AIS testes in abdomen; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115582 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115583 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115586 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 5 1 Bruce Gottlieb
00115588 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115589 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115590 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115591 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115592 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115593 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115594 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115595 - - sex of rearing F; sister and 2 aunts affected rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 4 4 Bruce Gottlieb
00115597 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115599 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115600 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115601 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115602 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115603 - - sex of rearing F; same family as 0830 rF - - - - 0 - - AIS gonads located in inguinal canal; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115604 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115605 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 3 1 Bruce Gottlieb
00115607 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115614 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115615 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115616 - - sex of rearing F rF - - - - 0 - - AIS bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115617 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115619 - - sex of rearing F rF - - - - 0 - - AIS 18y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115620 19377358-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - AIS androgen insensitivity syndrome AR AR 1 1 Lucy Raymond
00115621 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115624 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115625 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115626 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115628 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115629 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115630 - - sex of rearing F rF - - - - 0 - - AIS bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115636 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115638 - - sex of rearing F; affected sister rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 2 Bruce Gottlieb
00115639 - - sex of rearing F; same family as 0631 rF - - - - 0 - - AIS gonads located in inguinal canal; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115641 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115642 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115643 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115644 - - sex of rearing F rF - - - - 0 - - AIS tumor, Sertoli-Leydig tumor; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115645 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115646 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115648 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115650 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; varaible expressivity; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115656 09255042-Pat1 PubMed: Komori 1997 sex of rearing F rF - Japan - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 2 1 Bruce Gottlieb
00115658 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115660 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115687 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115689 - - sex of rearing F rF - - - - 0 - - AIS Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115697 19377363-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - AIS androgen insensitivity syndrome AR AR 1 1 Lucy Raymond
00115698 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115699 - - sex of rearing ? - - - - - 0 - - AIS androgen insensitivity syndrome, complete (CAIS)? AR AR 1 1 Bruce Gottlieb
00115700 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115704 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115711 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115712 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115717 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115718 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115723 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115728 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115729 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115738 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115739 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115740 19377364-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - AIS androgen insensitivity syndrome AR AR 1 1 Lucy Raymond
00115746 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115748 - - sex of rearing F rF - - - - 0 - - AIS Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115749 - - sex of rearing F; 3 affected siblings rF - - - - 0 - - AIS variable phenotype; genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 3 Bruce Gottlieb
00115750 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115751 19377365-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - AIS androgen insensitivity syndrome AR AR 1 1 Lucy Raymond
00115756 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115757 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115764 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115769 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115771 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115772 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115773 - - sex of rearing F; 2 different families rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 2 Bruce Gottlieb
00115774 - - sex of rearing F; sister of 652, 653 rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115775 - - sex of rearing F; sister of 441, 652 rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115776 - - sex of rearing F; sister of 441, 653 rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115777 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
00115778 - - sex of rearing F rF - - - - 0 - - AIS genitalia normal; androgen insensitivity syndrome, complete (CAIS) AR AR 1 1 Bruce Gottlieb
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