Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

aplasia cutis congenita

Synonyms

aplasia cutis congenita

aplasia cutis congenita recessive

aplasia cutis congenita (disease)

congenital defect of skull and scalp

scalp defect congenital

aplasia cutis congenita nonsyndromic

aplasia cutis congenita, nonsyndromic

scalp defect, congenital

ACC

Definitions

Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.

ID

http://purl.obolibrary.org/obo/MONDO_0007145

database_cross_reference

ICD9:757.39

NCIT:C98822

Orphanet:1114

DOID:0080661

SCTID:35484002

icd11.foundation:350175828

OMIM:107600

GARD:5835

HP:0001057

NORD:794

definition

Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1114

http://purl.obolibrary.org/obo/NCIT_C98822

http://purl.obolibrary.org/obo/DOID_0080661

https://omim.org/entry/107600

http://identifiers.org/snomedct/35484002

has_exact_synonym

aplasia cutis congenita

aplasia cutis congenita recessive

aplasia cutis congenita (disease)

has_related_synonym

congenital defect of skull and scalp

scalp defect congenital

aplasia cutis congenita nonsyndromic

aplasia cutis congenita, nonsyndromic

scalp defect, congenital

ACC

IAO_0000589

aplasia cutis congenita (disease)

id

MONDO:0007145

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease

label

aplasia cutis congenita

notation

MONDO:0007145

prefLabel

aplasia cutis congenita

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100118

http://purl.obolibrary.org/obo/MONDO_0019294

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007145 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007145 DOVES SAME_URI
rgo:29292 GAMUTS LOOM
rgo:29292 GAMUTS LOOM
http://purl.obolibrary.org/obo/HP_0001057 HP LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002963 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/X78Dv RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C98822 BERO LOOM
http://purl.obolibrary.org/obo/HP_0001057 HP LOOM
http://purl.obolibrary.org/obo/HP_0001057 UPHENO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-40120 SNMI LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU019222 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98822 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0007145 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Aplasia_Cutis_Congenita CSEO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Aplasia_Cutis_Congenita PEDTERM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009173 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DERMO_0003472 DERMO LOOM
http://purl.jp/bio/4/id/200906095505431348 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_1114 ORDO LOOM
http://www.gamuts.net/entity#aplasia_cutis_congenita GAMUTS LOOM
http://purl.org/obo/owl/HP#HP_0001057 BDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/35484002 SNOMEDCT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14769 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#27501 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0007145 MONDO LOOM