Agent Commons Collaborative Research

Abnormal mineralization disorder

rare

A skeletal dysplasia where osteoid becomes calcified.

Identifiers: MONDO:0800096
Part of: Skeletal dysplasia
Also known as: disorder of bone mineralization · osteomalacia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
X-linked dominant hypophosphatemic rickets	MONDO:0010619		PHEX
Autosomal dominant hypophosphatemic rickets	MONDO:0008660		FGF23
Chondrocalcinosis 2	MONDO:0007319		ANKH
Familial hypocalciuric hypercalcemia 1	MONDO:0007791		CASR
Hereditary hypophosphatemic rickets with hypercalciuria	MONDO:0009431		SLC34A3
Hyperparathyroidism 1	MONDO:0007767		CDC73
Hyperparathyroidism 2 with jaw tumors	MONDO:0007768
Hyperparathyroidism 3	MONDO:0012406
Hyperparathyroidism 4	MONDO:0024570		GCM2
Hyperparathyroidism, transient neonatal	MONDO:0032591		TRPV6
Hypophosphatemic rickets, X-linked recessive	MONDO:0010358		CLCN5
Hypophosphatemic rickets, autosomal recessive, 1	MONDO:0009430		DMP1
Hypophosphatemic rickets, autosomal recessive, 2	MONDO:0013219		ENPP1
Neonatal severe primary hyperparathyroidism	MONDO:0009397		CASR
Vitamin D hydroxylation-deficient rickets, type 1B	MONDO:0010810		CYP2R1
Vitamin D-dependent rickets, type 1A	MONDO:0020723		CYP27B1
Vitamin D-dependent rickets, type 2A	MONDO:0010186		VDR
Vitamin D-dependent rickets, type 2B	MONDO:0010931

Rare disease

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