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Manitoba oculotrichoanal syndrome

disorder
SNOMED 703539006CUI C1855425

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal distribution of hair
Very frequent (80-99%)HP:0010720
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Upper eyelid coloboma
Very frequent (80-99%)HP:0000636
Abnormality of the hairline
Frequent (30-79%)HP:0009553
Anteriorly displaced anus
Frequent (30-79%)HP:0001545
Broad, upturned nose
Frequent (30-79%)HP:0000455
Eyelid coloboma
Frequent (30-79%)HP:0000625
Lacrimal duct obstruction
Frequent (30-79%)HP:0000579
Narrowing of anal opening
Frequent (30-79%)HP:0002025
Omphalocoele
Frequent (30-79%)HP:0001539
Abnormally closed or absent vagina
Occasional (5-29%)HP:0000148
Absence of eyeballs
Occasional (5-29%)HP:0000528
Bifid tip of nose
Occasional (5-29%)HP:0000456
Cryptophthalmos
Occasional (5-29%)HP:0001126
Mental and motor retardation
Occasional (5-29%)HP:0001263
Nanophthalmos
Occasional (5-29%)HP:0000568
Corneopalpebral synechiae
HP:6000101

Quick Facts

SNOMED CT
703539006
UMLS CUI
C1855425
Fully Specified Name
Manitoba oculotrichoanal syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
17
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.