CAMURATI-ENGELMANN DISEASE

ENGELMANN DISEASE

http://purl.bioontology.org/ontology/OMIM/131300

ENGELMANN DISEASE

CED

PROGRESSIVE DIAPHYSEAL DYSPLASIA

DPD1

DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE

CAEND

PDD

C0011989

19q13.1

CED

TGFB1

DPD1

IBDIMDE

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU041270

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU018314

http://purl.bioontology.org/ontology/OMIM/MTHU000786

http://purl.bioontology.org/ontology/OMIM/MTHU018316

http://purl.bioontology.org/ontology/OMIM/MTHU015308

http://purl.bioontology.org/ontology/OMIM/MTHU036635

http://purl.bioontology.org/ontology/OMIM/MTHU018323

http://purl.bioontology.org/ontology/OMIM/MTHU018318

http://purl.bioontology.org/ontology/OMIM/MTHU002823

http://purl.bioontology.org/ontology/OMIM/MTHU018321

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

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU024231

http://purl.bioontology.org/ontology/OMIM/MTHU041271

http://purl.bioontology.org/ontology/OMIM/MTHU018313

http://purl.bioontology.org/ontology/OMIM/MTHU018319

http://purl.bioontology.org/ontology/OMIM/MTHU018317

http://purl.bioontology.org/ontology/OMIM/MTHU018315

http://purl.bioontology.org/ontology/OMIM/MTHU018312

http://purl.bioontology.org/ontology/OMIM/MTHU005786

Phenotype description, molecular basis known.

131300

3

pound

CAMURATI-ENGELMANN DISEASE

Caused by mutations in the beta-1 transforming growth factor gene (TGFB1, 190180.0001) [MOLECULAR BASIS]

Leg pain [MISCELLANEOUS]

Waddling gait [MISCELLANEOUS]

Onset in childhood [MISCELLANEOUS]

T047