SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY

ATD1

http://purl.bioontology.org/ontology/OMIM/208500

ATD1

ASPHYXIATING THORACIC DYSTROPHY 1

JEUNE SYNDROME

THORACIC-PELVIC-PHALANGEAL DYSTROPHY

SRTD1

C4551856

C0265275

15q13

SRTD1

ATD1

http://purl.bioontology.org/ontology/OMIM/MTHU014347

http://purl.bioontology.org/ontology/OMIM/MTHU014351

http://purl.bioontology.org/ontology/OMIM/MTHU014345

http://purl.bioontology.org/ontology/OMIM/MTHU014350

http://purl.bioontology.org/ontology/OMIM/MTHU014349

http://purl.bioontology.org/ontology/OMIM/MTHU014340

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU009087

http://purl.bioontology.org/ontology/OMIM/MTHU014357

http://purl.bioontology.org/ontology/OMIM/MTHU004127

http://purl.bioontology.org/ontology/OMIM/MTHU014344

http://purl.bioontology.org/ontology/OMIM/MTHU014352

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU014354

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

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU037259

http://purl.bioontology.org/ontology/OMIM/MTHU014339

http://purl.bioontology.org/ontology/OMIM/MTHU014342

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU014346

http://purl.bioontology.org/ontology/OMIM/MTHU014355

http://purl.bioontology.org/ontology/OMIM/MTHU024631

http://purl.bioontology.org/ontology/OMIM/MTHU004856

http://purl.bioontology.org/ontology/OMIM/MTHU005771

http://purl.bioontology.org/ontology/OMIM/MTHU014353

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

http://purl.bioontology.org/ontology/OMIM/MTHU011727

http://purl.bioontology.org/ontology/OMIM/MTHU014348

http://purl.bioontology.org/ontology/OMIM/MTHU014343

http://purl.bioontology.org/ontology/OMIM/MTHU007674

http://purl.bioontology.org/ontology/OMIM/MTHU001976

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU011293

http://purl.bioontology.org/ontology/OMIM/MTHU014341

Mendelian phenotype or locus, molecular basis unknown.

208500

5

perc

SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY

Death in infancy secondary to pulmonary insufficiency [MISCELLANEOUS]

Survivors may develop renal insufficiency and hepatic dysfunction [MISCELLANEOUS]

Variable severity [MISCELLANEOUS]

Frequency 1/100,000 - 1/130,000 live births [MISCELLANEOUS]

T047

T019