Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
Synonyms	ICHTHYOSIS, LAMELLAR, 1, FORMERLY
ID	http://purl.bioontology.org/ontology/OMIM/242300
altLabel	ICHTHYOSIS, LAMELLAR, 1, FORMERLY ICHTHYOSIS CONGENITA II ICR2 ICHTHYOSIS CONGENITA LI1, FORMERLY LAMELLAR EXFOLIATION OF NEWBORN ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION DESQUAMATION OF NEWBORN COLLODION FETUS ARCI1 COLLODION BABY, SELF-HEALING SHCB
cui	C4551630 C3543867 C0020758 C3536797 C1855789
Gene Locus	14q11.2
Gene Symbol	ARCI1 ICR2 TGM1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU037569 http://purl.bioontology.org/ontology/OMIM/MTHU029315 http://purl.bioontology.org/ontology/OMIM/MTHU037565 http://purl.bioontology.org/ontology/OMIM/MTHU037574 http://purl.bioontology.org/ontology/OMIM/MTHU037570 http://purl.bioontology.org/ontology/OMIM/MTHU002744 http://purl.bioontology.org/ontology/OMIM/MTHU067651 http://purl.bioontology.org/ontology/OMIM/MTHU037576 http://purl.bioontology.org/ontology/OMIM/MTHU037595 http://purl.bioontology.org/ontology/OMIM/MTHU067653 http://purl.bioontology.org/ontology/OMIM/MTHU037577 http://purl.bioontology.org/ontology/OMIM/MTHU067655 http://purl.bioontology.org/ontology/OMIM/MTHU037564 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU036311 http://purl.bioontology.org/ontology/OMIM/MTHU067656 http://purl.bioontology.org/ontology/OMIM/MTHU037575 http://purl.bioontology.org/ontology/OMIM/MTHU067654 http://purl.bioontology.org/ontology/OMIM/MTHU037578 http://purl.bioontology.org/ontology/OMIM/MTHU037579 http://purl.bioontology.org/ontology/OMIM/MTHU037563 http://purl.bioontology.org/ontology/OMIM/MTHU037580 http://purl.bioontology.org/ontology/OMIM/MTHU036408
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	242300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
Scope Statement	Seasonal variation in severity of skin symptoms reported by some patients [MISCELLANEOUS] Caused by mutation in the transglutaminase 1 gene (TGM1, 190195.0001) [MOLECULAR BASIS]
tui	T047 T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D017490	MESH	CUI
http://purl.bioontology.org/ontology/MESH/D017490	MESH	CUI
http://purl.bioontology.org/ontology/MESH/D017490	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C565473	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10021201	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10021200	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10010511	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/13059002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021201	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q80	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICPC2P/S83004	ICPC2P	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010511	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/13059002	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10/Q80.9	ICD10	CUI
http://purl.bioontology.org/ontology/MESH/D017490	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021200	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021200	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD9CM/757.1	ICD9CM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-40110	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10/Q80	ICD10	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021201	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10010511	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/0726-9470	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q80.9	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/PH1..	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/718632004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/718632004	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/OMIM_242300	CCO	LOOM
http://identifiers.org/omim/242300	REXO	LOOM
http://identifiers.org/omim/242300	GEXO	LOOM
http://identifiers.org/omim/242300	RETO	LOOM