CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT

CONRADI-HUNERMANN SYNDROME

http://purl.bioontology.org/ontology/OMIM/302960

CONRADI-HUNERMANN SYNDROME

CPXD

CDPX2

HAPPLE SYNDROME

CONRADI-HUNERMANN-HAPPLE SYNDROME

CDPXD

C0282102

Xp11.23-p11.22

CDPX2

MEND

CPXD

EBP

CPX

http://purl.bioontology.org/ontology/OMIM/MTHU007969

http://purl.bioontology.org/ontology/OMIM/MTHU007971

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU007977

http://purl.bioontology.org/ontology/OMIM/MTHU000514

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

http://purl.bioontology.org/ontology/OMIM/MTHU007987

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU007970

http://purl.bioontology.org/ontology/OMIM/MTHU007975

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU007973

http://purl.bioontology.org/ontology/OMIM/MTHU007979

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU007477

http://purl.bioontology.org/ontology/OMIM/MTHU007980

http://purl.bioontology.org/ontology/OMIM/MTHU007985

http://purl.bioontology.org/ontology/OMIM/MTHU007983

http://purl.bioontology.org/ontology/OMIM/MTHU022674

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU036562

http://purl.bioontology.org/ontology/OMIM/MTHU022672

http://purl.bioontology.org/ontology/OMIM/MTHU007478

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU036527

http://purl.bioontology.org/ontology/OMIM/MTHU007978

http://purl.bioontology.org/ontology/OMIM/MTHU007966

http://purl.bioontology.org/ontology/OMIM/MTHU007974

http://purl.bioontology.org/ontology/OMIM/MTHU049376

http://purl.bioontology.org/ontology/OMIM/MTHU007972

http://purl.bioontology.org/ontology/OMIM/MTHU028868

http://purl.bioontology.org/ontology/OMIM/MTHU002945

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU049377

http://purl.bioontology.org/ontology/OMIM/MTHU021458

http://purl.bioontology.org/ontology/OMIM/MTHU007981

http://purl.bioontology.org/ontology/OMIM/MTHU007984

http://purl.bioontology.org/ontology/OMIM/MTHU007982

http://purl.bioontology.org/ontology/OMIM/MTHU007976

http://purl.bioontology.org/ontology/OMIM/MTHU028867

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU000758

http://purl.bioontology.org/ontology/OMIM/MTHU001152

http://purl.bioontology.org/ontology/OMIM/MTHU007967

http://purl.bioontology.org/ontology/OMIM/MTHU036439

Phenotype description, molecular basis known.

302960

3

pound

CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT

T047