ZFIN Human Disease: chondrodysplasia punctata

OBO ID: DOID:2581

Term Name:	chondrodysplasia punctata		Search Ontology:
Synonyms:	Chondrodysplasia punctata congenita
Definition:	A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (2)
References:	GARD:8542 ICD10CM:Q77.3 MESH:D002806 NCI:C84632 OMIM:215105 ORDO:93442 SNOMEDCT_US_2023_03_01:205486004 UMLS_CUI:C0008445
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 chondrodysplasia punctata PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
msmo1^nu7/nu7	standard conditions	Anderson et al., 2020
msmo1^nu81/+; msmo1^nu7/+	standard conditions	Anderson et al., 2020
msmo1^nu81/nu81; nu100Tg	standard conditions	Anderson et al., 2020

PHENOTYPE No data available

CITATIONS (1)