ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

ILVASC

http://purl.bioontology.org/ontology/OMIM/607626

ILVASC

ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

NISCH SYNDROME

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

C1843355

3q28-q29

ILVASC

SEMP1

CLDN1

http://purl.bioontology.org/ontology/OMIM/MTHU002999

http://purl.bioontology.org/ontology/OMIM/MTHU002991

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU002995

http://purl.bioontology.org/ontology/OMIM/MTHU003002

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU003000

http://purl.bioontology.org/ontology/OMIM/MTHU003006

http://purl.bioontology.org/ontology/OMIM/MTHU002944

http://purl.bioontology.org/ontology/OMIM/MTHU002744

http://purl.bioontology.org/ontology/OMIM/MTHU003004

http://purl.bioontology.org/ontology/OMIM/MTHU002992

http://purl.bioontology.org/ontology/OMIM/MTHU002998

http://purl.bioontology.org/ontology/OMIM/MTHU002996

http://purl.bioontology.org/ontology/OMIM/MTHU003005

http://purl.bioontology.org/ontology/OMIM/MTHU002994

http://purl.bioontology.org/ontology/OMIM/MTHU003003

http://purl.bioontology.org/ontology/OMIM/MTHU003001

http://purl.bioontology.org/ontology/OMIM/MTHU003007

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU001311

http://purl.bioontology.org/ontology/OMIM/MTHU002570

Phenotype description, molecular basis known.

607626

3

pound

ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

Caused by mutations in the claudin-1 gene (CLDN1, 603718.0001) [MOLECULAR BASIS]

T047