ZFIN Human Disease: osteogenesis imperfecta

OBO ID: DOID:12347

Term Name:	osteogenesis imperfecta		Search Ontology:
Synonyms:	brittle bone disease Fragilitas ossium Lobstein's syndrome Osteopsathyrosis Vrolik's disease
Definition:	An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (6)
References:	GARD:1017 ICD10CM:Q78.0 ICD9CM:756.51 MESH:D010013 NCI:C26837 OMIM:PS166200 ORDO:666 SNOMEDCT_US_2023_03_01:254109004 UMLS_CUI:C0029434
Ontology:	Human Disease ( DOID:12347 )

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
bmp1a^{sa2416/sa2416}	standard conditions	Hur et al., 2017
bmp1a^tp34/tp34	standard conditions	Tomecka et al., 2019
col1a1a^dc124/+	standard conditions	(2)
col1a1a^dc124/+ (AB)	standard conditions	Fiedler et al., 2018
col1a1a^dc124/+ (AB)	standard conditions	Cotti et al., 2022
col1a1a^dmh13/+	standard conditions	Gistelinck et al., 2018
col1a1a^dmh14/+	standard conditions	Gistelinck et al., 2018
col1a1b^dmh29/+	standard conditions	Gistelinck et al., 2018
col1a2^dmh15/+	standard conditions	Gistelinck et al., 2018
col1a1a^sa1748/+; col1a1b^sa12931/+	standard conditions	Gistelinck et al., 2018

PHENOTYPE No data available

CITATIONS (10)