MNS

OSTEODYSPLASTY OF MELNICK AND NEEDLES

MELNICK-NEEDLES OSTEODYSPLASTY

http://purl.bioontology.org/ontology/OMIM/309350

MNS

OSTEODYSPLASTY OF MELNICK AND NEEDLES

MELNICK-NEEDLES OSTEODYSPLASTY

C0025237

Xq28

CSBS

FLNA

OPD1

NHBP

CVD1

FLN1

FGS2

FMD

OPD2

MNS

http://purl.bioontology.org/ontology/OMIM/MTHU007322

http://purl.bioontology.org/ontology/OMIM/MTHU036368

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU007331

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU000601

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU002225

http://purl.bioontology.org/ontology/OMIM/MTHU007327

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

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU007313

http://purl.bioontology.org/ontology/OMIM/MTHU007323

http://purl.bioontology.org/ontology/OMIM/MTHU002673

http://purl.bioontology.org/ontology/OMIM/MTHU007314

http://purl.bioontology.org/ontology/OMIM/MTHU005225

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU007337

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

http://purl.bioontology.org/ontology/OMIM/MTHU007317

http://purl.bioontology.org/ontology/OMIM/MTHU007329

http://purl.bioontology.org/ontology/OMIM/MTHU007335

http://purl.bioontology.org/ontology/OMIM/MTHU007320

http://purl.bioontology.org/ontology/OMIM/MTHU004124

http://purl.bioontology.org/ontology/OMIM/MTHU006299

http://purl.bioontology.org/ontology/OMIM/MTHU007325

http://purl.bioontology.org/ontology/OMIM/MTHU007333

http://purl.bioontology.org/ontology/OMIM/MTHU007332

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU011902

http://purl.bioontology.org/ontology/OMIM/MTHU007334

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU007312

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

http://purl.bioontology.org/ontology/OMIM/MTHU007318

http://purl.bioontology.org/ontology/OMIM/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU004146

http://purl.bioontology.org/ontology/OMIM/MTHU007338

http://purl.bioontology.org/ontology/OMIM/MTHU007315

http://purl.bioontology.org/ontology/OMIM/MTHU007328

http://purl.bioontology.org/ontology/OMIM/MTHU001507

http://purl.bioontology.org/ontology/OMIM/MTHU007321

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU003434

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU007324

http://purl.bioontology.org/ontology/OMIM/MTHU002328

http://purl.bioontology.org/ontology/OMIM/MTHU007330

http://purl.bioontology.org/ontology/OMIM/MTHU007319

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU007326

http://purl.bioontology.org/ontology/OMIM/MTHU036364

http://purl.bioontology.org/ontology/OMIM/MTHU007336

http://purl.bioontology.org/ontology/OMIM/MTHU007311

http://purl.bioontology.org/ontology/OMIM/MTHU007310

Phenotype description, molecular basis known.

309350

3

pound

MELNICK-NEEDLES SYNDROME

Otopalatodigital syndrome type I (OPD1, 311300) is an allelic disorder [MISCELLANEOUS]

Periventricular heterotopia (300049) is an allelic disorder [MISCELLANEOUS]

Fifty percent of cases secondary to new mutations [MISCELLANEOUS]

Otopalatodigital syndrome type II (OPD2, 304120) is an allelic disorder [MISCELLANEOUS]

Frontometaphyseal dysplasia (FMD, 305620) is an allelic disorder [MISCELLANEOUS]

Males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces [MISCELLANEOUS]

Caused by mutation in the filamin A gene (FLNA, 300017.0012) [MOLECULAR BASIS]

Affected males who survive are secondary to new mutations [MISCELLANEOUS]

T047