DONNAI-BARROW SYNDROME

FACIOOCULOACOUSTICORENAL SYNDROME

http://purl.bioontology.org/ontology/OMIM/222448

FACIOOCULOACOUSTICORENAL SYNDROME

DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA

DBS/FOAR SYNDROME

C1857277

2q24-q31

LRP2

DBS

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU001254

http://purl.bioontology.org/ontology/OMIM/MTHU002029

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

http://purl.bioontology.org/ontology/OMIM/MTHU001331

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU002187

http://purl.bioontology.org/ontology/OMIM/MTHU013459

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU013457

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU020769

http://purl.bioontology.org/ontology/OMIM/MTHU000607

http://purl.bioontology.org/ontology/OMIM/MTHU001436

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU073527

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU013460

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU036446

http://purl.bioontology.org/ontology/OMIM/MTHU067589

http://purl.bioontology.org/ontology/OMIM/MTHU020768

http://purl.bioontology.org/ontology/OMIM/MTHU004401

http://purl.bioontology.org/ontology/OMIM/MTHU037386

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU013456

http://purl.bioontology.org/ontology/OMIM/MTHU013458

http://purl.bioontology.org/ontology/OMIM/MTHU020770

http://purl.bioontology.org/ontology/OMIM/MTHU036799

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU005345

http://purl.bioontology.org/ontology/OMIM/MTHU001998

http://purl.bioontology.org/ontology/OMIM/MTHU005778

Phenotype description, molecular basis known.

227290

222448

3

pound

DONNAI-BARROW SYNDROME

Caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2, 600073.0001) [MOLECULAR BASIS]

T047