Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 - Classes | BMICC MedPortal Appliance

Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库

Last uploaded: September 7, 2023

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

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/ICD10CM/Q80	International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改	CUI
	http://purl.bmicc.cn/ontology/ICD10CN/Q80.9	《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China	CUI
	http://purl.bioontology.org/ontology/MESH/C565473	Medical Subject Headings / 医学主题词表	CUI
	http://purl.bmicc.cn/ontology/ICD10CN/Q80	《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China	CUI
	http://purl.bioontology.org/ontology/ICD10/Q80	International Classification of Diseases, Version 10 / 《国际疾病分类》第10版	CUI
	http://purl.bioontology.org/ontology/ICD10CM/Q80.9	International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改	CUI
	http://purl.bioontology.org/ontology/ICD10/Q80.9	International Classification of Diseases, Version 10 / 《国际疾病分类》第10版	CUI
	http://purl.bioontology.org/ontology/MESH/D017490	Medical Subject Headings / 医学主题词表	CUI
	http://purl.bioontology.org/ontology/MESH/D017490	Medical Subject Headings / 医学主题词表	CUI
	http://purl.bioontology.org/ontology/MESH/D017490	Medical Subject Headings / 医学主题词表	CUI
	http://purl.bioontology.org/ontology/MESH/D017490	Medical Subject Headings / 医学主题词表	CUI