has material basis in germline mutation in IKBKG incontinentia pigmenti https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/incontinentia_pigmenti GARD:0006778 UMLS:C0021171 MESH:D007184 MONDO:0010631 Orphanet:464 incontinentia pigmenti MEDGEN:7049 incontinentia pigmenti, X-linked dominant Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). Incontinentia pigmenti type 2 (formerly) OMIM:308300 Incontinentia pigmenti syndrome NCIT:C84787 DOID:12305 Wikipedia:Incongenita_pigmenti IP2 (formerly) ICD10CM:Q82.3 Bloch-Sulzberger syndrome Bloch-Siemens syndrome icd11.foundation:1542530268 NANDO:2200974 SCTID:367520004 IP NORD:1300 ectodermal dysplasia syndrome X-linked syndromic intellectual disability obsolete precancerous lesion of palpebral epidermis congenital vitreoretinal dysplasia