Preferred Name

ODONTOONYCHODERMAL DYSPLASIA

Synonyms

ECTD16

ID

http://purl.bioontology.org/ontology/OMIM/257980

altLabel

ECTD16

OODD

ECTODERMAL DYSPLASIA 16, HYPO- OR HYPERHIDROTIC/HAIR/TOOTH/NAIL TYPE

cui

C0796093

Gene Locus

2q35

Gene Symbol

WNT10A

STHAG4

OODD

SSPS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU023058

http://purl.bioontology.org/ontology/OMIM/MTHU023052

http://purl.bioontology.org/ontology/OMIM/MTHU023056

http://purl.bioontology.org/ontology/OMIM/MTHU023062

http://purl.bioontology.org/ontology/OMIM/MTHU023060

http://purl.bioontology.org/ontology/OMIM/MTHU023054

http://purl.bioontology.org/ontology/OMIM/MTHU023064

http://purl.bioontology.org/ontology/OMIM/MTHU004819

http://purl.bioontology.org/ontology/OMIM/MTHU005148

http://purl.bioontology.org/ontology/OMIM/MTHU008785

http://purl.bioontology.org/ontology/OMIM/MTHU001049

http://purl.bioontology.org/ontology/OMIM/MTHU002945

http://purl.bioontology.org/ontology/OMIM/MTHU023055

http://purl.bioontology.org/ontology/OMIM/MTHU023065

http://purl.bioontology.org/ontology/OMIM/MTHU023053

http://purl.bioontology.org/ontology/OMIM/MTHU023059

http://purl.bioontology.org/ontology/OMIM/MTHU023051

http://purl.bioontology.org/ontology/OMIM/MTHU023057

http://purl.bioontology.org/ontology/OMIM/MTHU023063

http://purl.bioontology.org/ontology/OMIM/MTHU023061

http://purl.bioontology.org/ontology/OMIM/MTHU019301

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

257980

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ODONTOONYCHODERMAL DYSPLASIA

Scope Statement

Caused by mutation in the wingless-type MMTV integration site family, member 10A gene (WNT10A, 606268.0001) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0009773 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009773 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537742 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537742 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_2721 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM