chondrodysplasia punctata

Term ID

DOID:2581

Synonyms

Definition

A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (2)

References

(all 8)

Ontology

Human Disease ( DOID:2581 )

Relationships

is a type of: monogenic disease syndrome

monogenic disease syndrome Show first 5 Terms
has subtype: autosomal dominant chondrodysplasia punctata rhizomelic chondrodysplasia punctata X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2

autosomal dominant chondrodysplasia punctata rhizomelic chondrodysplasia punctata X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

No data available

Zebrafish Models

Fish	Conditions	Disease	Citation
msmo1^nu81/nu81; nu100Tg	standard conditions	chondrodysplasia punctata	Anderson et al., 2020
msmo1^nu7/nu7	standard conditions	chondrodysplasia punctata	Anderson et al., 2020
msmo1^nu81/+; msmo1^nu7/+	standard conditions	chondrodysplasia punctata	Anderson et al., 2020

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