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Atrophia bulborum hereditaria

disorder
SNOMED 15228007CUI C0266526

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.

Shallow anterior chamber
Always present (100%)HP:0000594
Abnormal chorioretinal morphology
Very frequent (80-99%)HP:0000532
Abnormality of retina blood vessels
Very frequent (80-99%)HP:0008046
Anterior chamber synechiae
Very frequent (80-99%)HP:0007833
Blood vessel tumor
Very frequent (80-99%)HP:0100742
Cataract
Very frequent (80-99%)HP:0000518
Decreased size of eyeball
Very frequent (80-99%)HP:0000568
Deep set eye
Very frequent (80-99%)HP:0000490
Eye tumour
Very frequent (80-99%)HP:0100012
Hardening of skin and connective tissue
Very frequent (80-99%)HP:0000647
Iris hypoplasia
Very frequent (80-99%)HP:0007676
Legal blindness
Very frequent (80-99%)HP:0000618
Macrotia
Very frequent (80-99%)HP:0000400
Nasal bridge, thin
Very frequent (80-99%)HP:0000446
Ocular hypotelorism
Very frequent (80-99%)HP:0000601
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Abnormal cochlea morphology
Frequent (30-79%)HP:0000375
Abnormal erection
Frequent (30-79%)HP:0100639
Abnormal vitreous humor morphology
Frequent (30-79%)HP:0004327
Anxiety disease
Frequent (30-79%)HP:0000739
Aplasia/Hypoplasia of the lens
Frequent (30-79%)HP:0008063
Enlarged eyeball
Frequent (30-79%)HP:0000557
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Irritable mood
Frequent (30-79%)HP:0000737
Leukocoria
Frequent (30-79%)HP:0000555
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Persistent hyperplasia of primary vitreous
Frequent (30-79%)HP:0007968
Psychosis
Frequent (30-79%)HP:0000709
Repetitive behaviour Stereotypic behaviour
Frequent (30-79%)HP:0000733
Retinal detachment
Frequent (30-79%)HP:0000541

Related Conditions

Hereditary disorder of the visual system(parent)
Atrophic retina(parent)
X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT
15228007
UMLS CUI
C0266526
Fully Specified Name
Atrophia bulborum hereditaria (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
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.