loading...| Preferred Name | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | |
| Synonyms |
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 |
|
| 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 |
|
| 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 |