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Last uploaded: January 31, 2024

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Preferred Name	Incontinentia Pigmenti
Synonyms	Bloch-Siemens Syndrome
Definitions	A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.
ID	http://purl.bioontology.org/ontology/MESH/D007184
altLabel	Bloch-Siemens Syndrome Bloch-Sulzberger Syndrome Bloch Sulzberger Syndrome Bloch-Siemens-Sulzberger Syndrome Syndrome, Bloch-Sulzberger
AN	multiple skin & other abnorm; do not confuse with INCONTINENTIA PIGMENTI ACHROMIANS see PIGMENTATION DISORDERS
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0021171
DC	1
definition	A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.
DX	19910101
HN	91(87); was see under PIGMENTATION DISORDERS 1987-90
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	91; was see under PIGMENTATION DISORDERS 1987-90
Mapped from	http://purl.bioontology.org/ontology/MESH/C531716
MDA	19860403
MMR	20160701
MN	C16.131.831.580 C17.800.804.580 C16.131.077.445 C17.800.621.497 C17.800.827.420 C16.320.850.420
notation	D007184
prefLabel	Incontinentia Pigmenti
TERMUI	T021541 T841739 T841740 T021542
TH	OMIM (2013) NLM (1987) UNK (19XX) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D012868 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D010859 http://purl.bioontology.org/ontology/MESH/D012873

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRFRE/10077626	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10077626	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007184	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01013	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001675	NDFRT	CUI
http://purl.bioontology.org/ontology/SCTSPA/367520004	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/300248	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/PH323	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10077624	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10077624	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/308300	OMIM	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q82.3	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/367520004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10077624	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10077626	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10/Q82.3	ICD10	CUI
http://purl.obolibrary.org/obo/MONDO_0010631	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010631	EFO	LOOM
http://purl.obolibrary.org/obo/OMIM_308300	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010631	DOVES	LOOM
http://purl.jp/bio/4/id/200906046653411304	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.580	RH-MESH	LOOM
http://identifiers.org/omim/308300	REXO	LOOM
http://identifiers.org/omim/308300	GEXO	LOOM
http://identifiers.org/omim/308300	RETO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84787	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10077626	MEDDRA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.420	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0021171	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.580	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_360	HRDO	LOOM
http://www.gamuts.net/entity#incontinentia_pigmenti	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84787	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Incontinentia_Pigmenti	CSEO	LOOM
http://purl.bioontology.org/ontology/RCD/PH323	RCD	LOOM
http://purl.obolibrary.org/obo/DERMO_0000324	DERMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.497	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_464	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/308300	OMIM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040093	PMAPP-PMO	LOOM
http://id.nlm.nih.gov/mesh/D007184	MDM	LOOM
http://nanbyodata.jp/ontology/NANDO_2200974	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007184	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCTV2/PH32300	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.445	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.420	RH-MESH	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q82.3	ICD10CM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6646	OCHV	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17780	DERMLEX	LOOM
http://purl.obolibrary.org/obo/OMIT_0008311	OMIT	LOOM
http://purl.bioontology.org/ontology/ICD10/Q82.3	ICD10	LOOM