PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1

PPKCA, STEVANOVIC TYPE

http://purl.bioontology.org/ontology/OMIM/104100

PPKCA, STEVANOVIC TYPE

PPKCA1

KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME

C4304669

5q22.31

CMDR

EKVP3

HSS

ODOD

SDTY3

GJA1

ODDD

CX43

http://purl.bioontology.org/ontology/OMIM/MTHU048323

http://purl.bioontology.org/ontology/OMIM/MTHU048321

http://purl.bioontology.org/ontology/OMIM/MTHU048324

http://purl.bioontology.org/ontology/OMIM/MTHU022777

http://purl.bioontology.org/ontology/OMIM/MTHU048325

http://purl.bioontology.org/ontology/OMIM/MTHU066986

http://purl.bioontology.org/ontology/OMIM/MTHU048329

http://purl.bioontology.org/ontology/OMIM/MTHU031064

http://purl.bioontology.org/ontology/OMIM/MTHU048328

http://purl.bioontology.org/ontology/OMIM/MTHU036381

http://purl.bioontology.org/ontology/OMIM/MTHU048327

http://purl.bioontology.org/ontology/OMIM/MTHU013122

http://purl.bioontology.org/ontology/OMIM/MTHU048326

http://purl.bioontology.org/ontology/OMIM/MTHU048322

http://purl.bioontology.org/ontology/OMIM/MTHU048331

http://purl.bioontology.org/ontology/OMIM/MTHU048330

http://purl.bioontology.org/ontology/OMIM/MTHU036313

Phenotype description, molecular basis known.

104100

3

pound

PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1

Onset in infancy [MISCELLANEOUS]

Caused by mutation in the alpha-1 gap junction protein gene (GJA1, 121014.0023) [MOLECULAR BASIS]

T047