Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

Robinow syndrome

Synonyms

fetal face syndrome

Robinow dwarfism

acral dysostosis with facial and genital abnormalities

Definitions

A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. NT MGI.

ID

http://purl.obolibrary.org/obo/DOID_0060254

comment

NT MGI.

alternative label

fetal face syndrome

Robinow dwarfism

acral dysostosis with facial and genital abnormalities

created by

emitraka

creation_date

2015-01-29T16:42:52Z

database_cross_reference

ICD10CM:Q87.19

MESH:C562492

OMIM:PS268310

SNOMEDCT_US_2023_03_01:76520005

UMLS_CUI:C0265205

GARD:312

NCI:C85048

ORDO:97360

definition

A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

NT MGI.

has exact synonym

fetal face syndrome

Robinow dwarfism

acral dysostosis with facial and genital abnormalities

has material basis in

http://purl.obolibrary.org/obo/GENO_0000934

has_obo_namespace

disease_ontology

id

DOID:0060254

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Robinow syndrome

notation

DOID:0060254

note

A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

NT MGI.

preferred label

Robinow syndrome

prefLabel

Robinow syndrome

textual definition

A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050739

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060254 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0060254 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0060254 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_0060254 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060254 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0060254 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0060254 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060254 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019978 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0060254 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060254 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060254 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6700 RCTV2 LOOM
http://purl.bioontology.org/ontology/MESH/C562492 MESH LOOM
http://purl.bioontology.org/ontology/RCD/PKy67 RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265205 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C85048 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084325 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_97360 ORDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00304 SNMI LOOM
http://www.gamuts.net/entity#Robinow_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0019978 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76520005 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85048 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Robinow_Syndrome CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12911 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14912 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0019978 EFO LOOM