Preferred Name |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A |
Synonyms |
ICHTHYOSIS, LAMELLAR, 2, FORMERLY |
ID |
http://purl.bioontology.org/ontology/OMIM/601277 |
altLabel |
ICHTHYOSIS, LAMELLAR, 2, FORMERLY ICR2B ICHTHYOSIS CONGENITA IIB ARCI4A LI2, FORMERLY |
cui |
C1832550 |
Gene Locus |
2q34 |
Gene Symbol |
ARCI4B ABCA12 LI2 ICR2B ARCI4A |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037564 http://purl.bioontology.org/ontology/OMIM/MTHU000701 http://purl.bioontology.org/ontology/OMIM/MTHU038518 http://purl.bioontology.org/ontology/OMIM/MTHU037595 http://purl.bioontology.org/ontology/OMIM/MTHU038516 http://purl.bioontology.org/ontology/OMIM/MTHU038521 http://purl.bioontology.org/ontology/OMIM/MTHU038519 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
601277 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A |
tui |
T019 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C537264 | Medical Subject Headings | CUI |