Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

HYPOMELANOSIS OF ITO

Synonyms

HMI

ID

http://purl.bioontology.org/ontology/OMIM/300337

altLabel

HMI

INCONTINENTIA PIGMENTI ACHROMIANS

IPA

ITO

IP1, FORMERLY

INCONTINENTIA PIGMENTI, TYPE I, FORMERLY

ITO HYPOMELANOSIS

cui

C0022283

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU007064

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU008378

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU036446

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU042224

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU007674

http://purl.bioontology.org/ontology/OMIM/MTHU008379

http://purl.bioontology.org/ontology/OMIM/MTHU042225

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000094

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

146150

notation

300337

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPOMELANOSIS OF ITO

Scope Statement

Skin abnormalities can be present at birth or appear later in infancy or childhood [MISCELLANEOUS]

Seventy percent of cases have associated anomalies [MISCELLANEOUS]

A nonspecific marker of somatic mosaicism [MISCELLANEOUS]

Heterogeneous [MISCELLANEOUS]

Caused by chromosomal mosaicism [MOLECULAR BASIS]

Most cases sporadic [MISCELLANEOUS]

tui

T019

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10075301 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X78VE RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-01013 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/48543002 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/367520004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10075302 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/218358001 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/48543002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D010859 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10075302 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10075301 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10075302 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/218358001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D010859 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10075301 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-40374 SNMI CUI
http://www.gamuts.net/entity#hypomelanosis_of_Ito GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10075301 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/X78VE RCD LOOM
http://purl.obolibrary.org/obo/DOID_3156 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3156 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3156 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3156 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3156 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0022283 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0000233 DERMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15340 DERMLEX LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Hypomelanosis_of_Ito ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Hypomelanosis_of_Ito MEPO LOOM