Agent Commons Collaborative Research

Short rib dysplasia

rare

Identifiers: MONDO:0019691 Orphanet:93426
Part of: Skeletal dysplasia
Also known as: short-rib dysplasia (with or without polydactyly) · SRP

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Short rib-polydactyly syndrome	MONDO:0015461	36
NEK9-related lethal skeletal dysplasia	MONDO:0014870		NEK9
Axial spondylometaphyseal dysplasia	MONDO:0011211		CFAP410
Orofaciodigital syndrome IV	MONDO:0009794		TCTN3
Orofaciodigital syndrome type II	MONDO:0009642
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic	MONDO:0800356
Thoracolaryngopelvic dysplasia	MONDO:0008551
Thoracomelic dysplasia	MONDO:0010116

Rare disease

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