Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

X-Linked Chondrodysplasia Punctata 1

Synonyms

X-Linked Recessive Chondrodysplasia Punctata 1

ID

http://purl.bioontology.org/ontology/MESH/C580533

altLabel

X-Linked Recessive Chondrodysplasia Punctata 1

Chondrodysplasia Punctata 1, X-Linked

Chondrodysplasia punctata 1, X-linked recessive

Arylsulfatase E Deficiency

CDXP1

Cdpx1

cui

C3669395

HM

D040181

D002806

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D002806

http://purl.bioontology.org/ontology/MESH/D040181

MDA

20131024

MeSH Frequency

12

MMR

20211019

notation

C580533

prefLabel

X-Linked Chondrodysplasia Punctata 1

SC

3

TERMUI

T842724

T842722

T000994160

T842723

T842721

T737734

T842725

TH

ORD (2010)

OMIM (2013)

NLM (2019)

GHR (2014)

tui

T047

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http://purl.obolibrary.org/obo/DOID_0060292 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010555 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010555 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/302950 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/300180 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI