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Diaphanospondylodysostosis

1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Brachydactyly type A2

1 OMIM reference -
3 associated genes
6 signs/symptoms

Diaphanospondylodysostosis

Brachydactyly type A2

BMPER	(UniProt - OMIM)		BMP2	(UniProt - OMIM)
			BMPR1B	(UniProt - OMIM)
			GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPER	(0.52)	BMP2

Citations in the biomedical literature:

Diaphanospondylodysostosis		Brachydactyly type A2
	Synonym(s): (no synonyms)		Synonym(s): - Brachydactyly, Mohr-Wriedt type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537089

Diaphanospondylodysostosis		Brachydactyly type A2
	Very frequent - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Myelomeningocele - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Polycystic kidneys - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Short neck - Short rib cage / thorax - Stillbirth / neonatal death - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Autosomal dominant inheritance - Short hand / brachydactyly Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia